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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1554799094

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:59227976-59227987 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
delAT / insAC(AT)10 / dupAT / dupA…

delAT / insAC(AT)10 / dupAT / dupATAT / dup(AT)3 / dup(AT)4 / dup(AT)5 / ins(AT)5AG(AT)12 / dup(AT)6 / ins(AT)7 / ins(AT)8 / ins(AT)9 / ins(AT)10 / ins(AT)11 / ins(AT)12 / ins(AT)13 / ins(AT)14 / ins(AT)15 / ins(AT)16 / ins(AT)17 / ins(AT)18 / ins(AT)19 / ins(AT)20 / ins(AT)21 / ins(AT)23 / ins(AT)6G(TA)10T / ins(AT)5G(TA)10T / ins(AT)5G(TA)11T / ins(AT)4G(TA)10T / insATATG(TA)10T

Variation Type
Indel Insertion and Deletion
Frequency
ins(AT)11=0.00412 (60/14553, ALFA)
dupATAT=0.0072 (36/5008, 1000G)
delAT=0.0060 (23/3854, ALSPAC) (+ 1 more)
delAT=0.0038 (14/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHYHIPL : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14553 ATATATATATAT=0.99251 ATATATATAT=0.00000, ATATATATATATACATATATATATATATATATAT=0.00000, ATATATATATATAT=0.00000, ATATATATATATATAT=0.00000, ATATATATATATATATAT=0.00000, ATATATATATATATATATAT=0.00000, ATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATAT=0.00412, ATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATATAT=0.00337, ATATATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.00000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.00000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.00000, ATATATATATATATATATATGTATATATATATATATATATAT=0.00000, ATATATATATATATATGTATATATATATATATATATAT=0.00000 0.992795 0.000424 0.006782 32
European Sub 11540 ATATATATATAT=0.99064 ATATATATAT=0.00000, ATATATATATATACATATATATATATATATATAT=0.00000, ATATATATATATAT=0.00000, ATATATATATATATAT=0.00000, ATATATATATATATATAT=0.00000, ATATATATATATATATATAT=0.00000, ATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATAT=0.00520, ATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATATAT=0.00416, ATATATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.00000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.00000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.00000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.00000, ATATATATATATATATATATGTATATATATATATATATATAT=0.00000, ATATATATATATATATGTATATATATATATATATATAT=0.00000 0.990849 0.000538 0.008613 34
African Sub 1728 ATATATATATAT=1.0000 ATATATATAT=0.0000, ATATATATATATACATATATATATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000, ATATATATATATATATATAT=0.0000, ATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.0000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.0000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.0000, ATATATATATATATATATATGTATATATATATATATATATAT=0.0000, ATATATATATATATATGTATATATATATATATATATAT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 68 ATATATATATAT=1.00 ATATATATAT=0.00, ATATATATATATACATATATATATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00, ATATATATATATATATATATAT=0.00, ATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.00, ATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATGTATATATATATATATATATAT=0.00 1.0 0.0 0.0 N/A
African American Sub 1660 ATATATATATAT=1.0000 ATATATATAT=0.0000, ATATATATATATACATATATATATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000, ATATATATATATATATATAT=0.0000, ATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.0000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.0000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.0000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.0000, ATATATATATATATATATATGTATATATATATATATATATAT=0.0000, ATATATATATATATATGTATATATATATATATATATAT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 106 ATATATATATAT=1.000 ATATATATAT=0.000, ATATATATATATACATATATATATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000, ATATATATATATATATATATAT=0.000, ATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.000, ATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATGTATATATATATATATATATAT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 82 ATATATATATAT=1.00 ATATATATAT=0.00, ATATATATATATACATATATATATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00, ATATATATATATATATATATAT=0.00, ATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.00, ATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATGTATATATATATATATATATAT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 ATATATATATAT=1.00 ATATATATAT=0.00, ATATATATATATACATATATATATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00, ATATATATATATATATATATAT=0.00, ATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.00, ATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATGTATATATATATATATATATAT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 114 ATATATATATAT=1.000 ATATATATAT=0.000, ATATATATATATACATATATATATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000, ATATATATATATATATATATAT=0.000, ATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.000, ATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATGTATATATATATATATATATAT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 576 ATATATATATAT=1.000 ATATATATAT=0.000, ATATATATATATACATATATATATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000, ATATATATATATATATATATAT=0.000, ATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.000, ATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATGTATATATATATATATATATAT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 90 ATATATATATAT=1.00 ATATATATAT=0.00, ATATATATATATACATATATATATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATAT=0.00, ATATATATATATATATAT=0.00, ATATATATATATATATATAT=0.00, ATATATATATATATATATATAT=0.00, ATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATATATATATATATATATATATAT=0.00, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.00, ATATATATATATATATATATGTATATATATATATATATATAT=0.00, ATATATATATATATATGTATATATATATATATATATAT=0.00 1.0 0.0 0.0 N/A
Other Sub 399 ATATATATATAT=0.997 ATATATATAT=0.000, ATATATATATATACATATATATATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATAT=0.000, ATATATATATATATATAT=0.000, ATATATATATATATATATAT=0.000, ATATATATATATATATATATAT=0.000, ATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATAT=0.003, ATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATATATATATATATATATATATAT=0.000, ATATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATATATATGTATATATATATATATATATATAT=0.000, ATATATATATATATATATATGTATATATATATATATATATAT=0.000, ATATATATATATATATGTATATATATATATATATATAT=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 14553 (AT)6=0.99251 delAT=0.00000, insAC(AT)10=0.00000, dupAT=0.00000, dupATAT=0.00000, dup(AT)3=0.00000, dup(AT)4=0.00000, dup(AT)5=0.00000, dup(AT)6=0.00000, ins(AT)7=0.00000, ins(AT)8=0.00000, ins(AT)9=0.00000, ins(AT)10=0.00000, ins(AT)11=0.00412, ins(AT)12=0.00000, ins(AT)13=0.00000, ins(AT)14=0.00337, ins(AT)15=0.00000, ins(AT)16=0.00000, ins(AT)17=0.00000, ins(AT)6G(TA)10T=0.00000, ins(AT)5G(TA)10T=0.00000, ins(AT)5G(TA)11T=0.00000, ins(AT)4G(TA)10T=0.00000, insATATG(TA)10T=0.00000
Allele Frequency Aggregator European Sub 11540 (AT)6=0.99064 delAT=0.00000, insAC(AT)10=0.00000, dupAT=0.00000, dupATAT=0.00000, dup(AT)3=0.00000, dup(AT)4=0.00000, dup(AT)5=0.00000, dup(AT)6=0.00000, ins(AT)7=0.00000, ins(AT)8=0.00000, ins(AT)9=0.00000, ins(AT)10=0.00000, ins(AT)11=0.00520, ins(AT)12=0.00000, ins(AT)13=0.00000, ins(AT)14=0.00416, ins(AT)15=0.00000, ins(AT)16=0.00000, ins(AT)17=0.00000, ins(AT)6G(TA)10T=0.00000, ins(AT)5G(TA)10T=0.00000, ins(AT)5G(TA)11T=0.00000, ins(AT)4G(TA)10T=0.00000, insATATG(TA)10T=0.00000
Allele Frequency Aggregator African Sub 1728 (AT)6=1.0000 delAT=0.0000, insAC(AT)10=0.0000, dupAT=0.0000, dupATAT=0.0000, dup(AT)3=0.0000, dup(AT)4=0.0000, dup(AT)5=0.0000, dup(AT)6=0.0000, ins(AT)7=0.0000, ins(AT)8=0.0000, ins(AT)9=0.0000, ins(AT)10=0.0000, ins(AT)11=0.0000, ins(AT)12=0.0000, ins(AT)13=0.0000, ins(AT)14=0.0000, ins(AT)15=0.0000, ins(AT)16=0.0000, ins(AT)17=0.0000, ins(AT)6G(TA)10T=0.0000, ins(AT)5G(TA)10T=0.0000, ins(AT)5G(TA)11T=0.0000, ins(AT)4G(TA)10T=0.0000, insATATG(TA)10T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 576 (AT)6=1.000 delAT=0.000, insAC(AT)10=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)3=0.000, dup(AT)4=0.000, dup(AT)5=0.000, dup(AT)6=0.000, ins(AT)7=0.000, ins(AT)8=0.000, ins(AT)9=0.000, ins(AT)10=0.000, ins(AT)11=0.000, ins(AT)12=0.000, ins(AT)13=0.000, ins(AT)14=0.000, ins(AT)15=0.000, ins(AT)16=0.000, ins(AT)17=0.000, ins(AT)6G(TA)10T=0.000, ins(AT)5G(TA)10T=0.000, ins(AT)5G(TA)11T=0.000, ins(AT)4G(TA)10T=0.000, insATATG(TA)10T=0.000
Allele Frequency Aggregator Other Sub 399 (AT)6=0.997 delAT=0.000, insAC(AT)10=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)3=0.000, dup(AT)4=0.000, dup(AT)5=0.000, dup(AT)6=0.000, ins(AT)7=0.000, ins(AT)8=0.000, ins(AT)9=0.000, ins(AT)10=0.000, ins(AT)11=0.000, ins(AT)12=0.000, ins(AT)13=0.000, ins(AT)14=0.003, ins(AT)15=0.000, ins(AT)16=0.000, ins(AT)17=0.000, ins(AT)6G(TA)10T=0.000, ins(AT)5G(TA)10T=0.000, ins(AT)5G(TA)11T=0.000, ins(AT)4G(TA)10T=0.000, insATATG(TA)10T=0.000
Allele Frequency Aggregator Latin American 1 Sub 114 (AT)6=1.000 delAT=0.000, insAC(AT)10=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)3=0.000, dup(AT)4=0.000, dup(AT)5=0.000, dup(AT)6=0.000, ins(AT)7=0.000, ins(AT)8=0.000, ins(AT)9=0.000, ins(AT)10=0.000, ins(AT)11=0.000, ins(AT)12=0.000, ins(AT)13=0.000, ins(AT)14=0.000, ins(AT)15=0.000, ins(AT)16=0.000, ins(AT)17=0.000, ins(AT)6G(TA)10T=0.000, ins(AT)5G(TA)10T=0.000, ins(AT)5G(TA)11T=0.000, ins(AT)4G(TA)10T=0.000, insATATG(TA)10T=0.000
Allele Frequency Aggregator Asian Sub 106 (AT)6=1.000 delAT=0.000, insAC(AT)10=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)3=0.000, dup(AT)4=0.000, dup(AT)5=0.000, dup(AT)6=0.000, ins(AT)7=0.000, ins(AT)8=0.000, ins(AT)9=0.000, ins(AT)10=0.000, ins(AT)11=0.000, ins(AT)12=0.000, ins(AT)13=0.000, ins(AT)14=0.000, ins(AT)15=0.000, ins(AT)16=0.000, ins(AT)17=0.000, ins(AT)6G(TA)10T=0.000, ins(AT)5G(TA)10T=0.000, ins(AT)5G(TA)11T=0.000, ins(AT)4G(TA)10T=0.000, insATATG(TA)10T=0.000
Allele Frequency Aggregator South Asian Sub 90 (AT)6=1.00 delAT=0.00, insAC(AT)10=0.00, dupAT=0.00, dupATAT=0.00, dup(AT)3=0.00, dup(AT)4=0.00, dup(AT)5=0.00, dup(AT)6=0.00, ins(AT)7=0.00, ins(AT)8=0.00, ins(AT)9=0.00, ins(AT)10=0.00, ins(AT)11=0.00, ins(AT)12=0.00, ins(AT)13=0.00, ins(AT)14=0.00, ins(AT)15=0.00, ins(AT)16=0.00, ins(AT)17=0.00, ins(AT)6G(TA)10T=0.00, ins(AT)5G(TA)10T=0.00, ins(AT)5G(TA)11T=0.00, ins(AT)4G(TA)10T=0.00, insATATG(TA)10T=0.00
1000Genomes Global Study-wide 5008 -

No frequency provided

dupATAT=0.0072, dup(AT)3=0.0038
1000Genomes African Sub 1322 -

No frequency provided

dupATAT=0.0272, dup(AT)3=0.0129
1000Genomes East Asian Sub 1008 -

No frequency provided

dupATAT=0.0000, dup(AT)3=0.0000
1000Genomes Europe Sub 1006 -

No frequency provided

dupATAT=0.0000, dup(AT)3=0.0000
1000Genomes South Asian Sub 978 -

No frequency provided

dupATAT=0.000, dup(AT)3=0.000
1000Genomes American Sub 694 -

No frequency provided

dupATAT=0.000, dup(AT)3=0.003
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (AT)6=0.9940 delAT=0.0060
UK 10K study - Twins TWIN COHORT Study-wide 3708 (AT)6=0.9962 delAT=0.0038
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[5]
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987AT[6]ACATATATATATATATATATAT[1]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[7]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[8]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[9]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[10]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[11]
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987AT[11]AGATATATATATATATATATATATAT[1]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[12]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[13]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[14]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[15]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[16]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[17]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[18]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[19]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[20]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[21]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[22]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[23]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[24]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[25]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[26]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[27]
GRCh38.p14 chr 10 NC_000010.11:g.59227976AT[29]
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987AT[12]GTATATATATATATATATATAT[1]
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987AT[11]GTATATATATATATATATATAT[1]
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987AT[11]GTATATATATATATATATATATAT[1]
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987AT[10]GTATATATATATATATATATAT[1]
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987AT[8]GTATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[5]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747AT[6]ACATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[7]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[8]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[9]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[10]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[11]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747AT[11]AGATATATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[12]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[13]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[14]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[15]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[16]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[17]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[18]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[19]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[20]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[21]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[22]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[23]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[24]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[25]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[26]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[27]
GRCh37.p13 chr 10 NC_000010.10:g.60987736AT[29]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747AT[12]GTATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747AT[11]GTATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747AT[11]GTATATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747AT[10]GTATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747AT[8]GTATATATATATATATATATAT[1]
Gene: PHYHIPL, phytanoyl-CoA 2-hydroxylase interacting protein like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PHYHIPL transcript variant 2 NM_001143774.2:c.29-6328A…

NM_001143774.2:c.29-6328AT[5]

N/A Intron Variant
PHYHIPL transcript variant 1 NM_032439.4:c.107-6328AT[…

NM_032439.4:c.107-6328AT[5]

N/A Intron Variant
PHYHIPL transcript variant X2 XM_011540275.4:c.-32-6328…

XM_011540275.4:c.-32-6328AT[5]

N/A Intron Variant
PHYHIPL transcript variant X1 XM_011540276.4:c.-32-6328…

XM_011540276.4:c.-32-6328AT[5]

N/A Intron Variant
PHYHIPL transcript variant X4 XM_017016782.2:c.-32-6328…

XM_017016782.2:c.-32-6328AT[5]

N/A Intron Variant
PHYHIPL transcript variant X3 XM_017016783.3:c.-32-6328…

XM_017016783.3:c.-32-6328AT[5]

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (AT)6= delAT insAC(AT)10 dupAT dupATAT dup(AT)3 dup(AT)4 dup(AT)5 ins(AT)5AG(AT)12 dup(AT)6 ins(AT)7 ins(AT)8 ins(AT)9 ins(AT)10 ins(AT)11 ins(AT)12 ins(AT)13 ins(AT)14 ins(AT)15 ins(AT)16 ins(AT)17 ins(AT)18 ins(AT)19 ins(AT)20 ins(AT)21 ins(AT)23 ins(AT)6G(TA)10T ins(AT)5G(TA)10T ins(AT)5G(TA)11T ins(AT)4G(TA)10T insATATG(TA)10T
GRCh38.p14 chr 10 NC_000010.11:g.59227976_59227987= NC_000010.11:g.59227976AT[5] NC_000010.11:g.59227976_59227987AT[6]ACATATATATATATATATATAT[1] NC_000010.11:g.59227976AT[7] NC_000010.11:g.59227976AT[8] NC_000010.11:g.59227976AT[9] NC_000010.11:g.59227976AT[10] NC_000010.11:g.59227976AT[11] NC_000010.11:g.59227976_59227987AT[11]AGATATATATATATATATATATATAT[1] NC_000010.11:g.59227976AT[12] NC_000010.11:g.59227976AT[13] NC_000010.11:g.59227976AT[14] NC_000010.11:g.59227976AT[15] NC_000010.11:g.59227976AT[16] NC_000010.11:g.59227976AT[17] NC_000010.11:g.59227976AT[18] NC_000010.11:g.59227976AT[19] NC_000010.11:g.59227976AT[20] NC_000010.11:g.59227976AT[21] NC_000010.11:g.59227976AT[22] NC_000010.11:g.59227976AT[23] NC_000010.11:g.59227976AT[24] NC_000010.11:g.59227976AT[25] NC_000010.11:g.59227976AT[26] NC_000010.11:g.59227976AT[27] NC_000010.11:g.59227976AT[29] NC_000010.11:g.59227976_59227987AT[12]GTATATATATATATATATATAT[1] NC_000010.11:g.59227976_59227987AT[11]GTATATATATATATATATATAT[1] NC_000010.11:g.59227976_59227987AT[11]GTATATATATATATATATATATAT[1] NC_000010.11:g.59227976_59227987AT[10]GTATATATATATATATATATAT[1] NC_000010.11:g.59227976_59227987AT[8]GTATATATATATATATATATAT[1]
GRCh37.p13 chr 10 NC_000010.10:g.60987736_60987747= NC_000010.10:g.60987736AT[5] NC_000010.10:g.60987736_60987747AT[6]ACATATATATATATATATATAT[1] NC_000010.10:g.60987736AT[7] NC_000010.10:g.60987736AT[8] NC_000010.10:g.60987736AT[9] NC_000010.10:g.60987736AT[10] NC_000010.10:g.60987736AT[11] NC_000010.10:g.60987736_60987747AT[11]AGATATATATATATATATATATATAT[1] NC_000010.10:g.60987736AT[12] NC_000010.10:g.60987736AT[13] NC_000010.10:g.60987736AT[14] NC_000010.10:g.60987736AT[15] NC_000010.10:g.60987736AT[16] NC_000010.10:g.60987736AT[17] NC_000010.10:g.60987736AT[18] NC_000010.10:g.60987736AT[19] NC_000010.10:g.60987736AT[20] NC_000010.10:g.60987736AT[21] NC_000010.10:g.60987736AT[22] NC_000010.10:g.60987736AT[23] NC_000010.10:g.60987736AT[24] NC_000010.10:g.60987736AT[25] NC_000010.10:g.60987736AT[26] NC_000010.10:g.60987736AT[27] NC_000010.10:g.60987736AT[29] NC_000010.10:g.60987736_60987747AT[12]GTATATATATATATATATATAT[1] NC_000010.10:g.60987736_60987747AT[11]GTATATATATATATATATATAT[1] NC_000010.10:g.60987736_60987747AT[11]GTATATATATATATATATATATAT[1] NC_000010.10:g.60987736_60987747AT[10]GTATATATATATATATATATAT[1] NC_000010.10:g.60987736_60987747AT[8]GTATATATATATATATATATAT[1]
PHYHIPL transcript variant 2 NM_001143774.1:c.29-6328= NM_001143774.1:c.29-6328AT[5] NM_001143774.1:c.29-6317_29-6316insACATATATATATATATATATAT NM_001143774.1:c.29-6328AT[7] NM_001143774.1:c.29-6328AT[8] NM_001143774.1:c.29-6328AT[9] NM_001143774.1:c.29-6328AT[10] NM_001143774.1:c.29-6328AT[11] NM_001143774.1:c.29-6317_29-6316insATATATATATAGATATATATATATATATATATATAT NM_001143774.1:c.29-6328AT[12] NM_001143774.1:c.29-6328AT[13] NM_001143774.1:c.29-6328AT[14] NM_001143774.1:c.29-6328AT[15] NM_001143774.1:c.29-6328AT[16] NM_001143774.1:c.29-6328AT[17] NM_001143774.1:c.29-6328AT[18] NM_001143774.1:c.29-6328AT[19] NM_001143774.1:c.29-6328AT[20] NM_001143774.1:c.29-6328AT[21] NM_001143774.1:c.29-6328AT[22] NM_001143774.1:c.29-6328AT[23] NM_001143774.1:c.29-6328AT[24] NM_001143774.1:c.29-6328AT[25] NM_001143774.1:c.29-6328AT[26] NM_001143774.1:c.29-6328AT[27] NM_001143774.1:c.29-6328AT[29] NM_001143774.1:c.29-6317_29-6316insATATATATATATGTATATATATATATATATATAT NM_001143774.1:c.29-6317_29-6316insATATATATATGTATATATATATATATATATAT NM_001143774.1:c.29-6317_29-6316insATATATATATGTATATATATATATATATATATAT NM_001143774.1:c.29-6317_29-6316insATATATATGTATATATATATATATATATAT NM_001143774.1:c.29-6317_29-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant 2 NM_001143774.2:c.29-6328= NM_001143774.2:c.29-6328AT[5] NM_001143774.2:c.29-6317_29-6316insACATATATATATATATATATAT NM_001143774.2:c.29-6328AT[7] NM_001143774.2:c.29-6328AT[8] NM_001143774.2:c.29-6328AT[9] NM_001143774.2:c.29-6328AT[10] NM_001143774.2:c.29-6328AT[11] NM_001143774.2:c.29-6317_29-6316insATATATATATAGATATATATATATATATATATATAT NM_001143774.2:c.29-6328AT[12] NM_001143774.2:c.29-6328AT[13] NM_001143774.2:c.29-6328AT[14] NM_001143774.2:c.29-6328AT[15] NM_001143774.2:c.29-6328AT[16] NM_001143774.2:c.29-6328AT[17] NM_001143774.2:c.29-6328AT[18] NM_001143774.2:c.29-6328AT[19] NM_001143774.2:c.29-6328AT[20] NM_001143774.2:c.29-6328AT[21] NM_001143774.2:c.29-6328AT[22] NM_001143774.2:c.29-6328AT[23] NM_001143774.2:c.29-6328AT[24] NM_001143774.2:c.29-6328AT[25] NM_001143774.2:c.29-6328AT[26] NM_001143774.2:c.29-6328AT[27] NM_001143774.2:c.29-6328AT[29] NM_001143774.2:c.29-6317_29-6316insATATATATATATGTATATATATATATATATATAT NM_001143774.2:c.29-6317_29-6316insATATATATATGTATATATATATATATATATAT NM_001143774.2:c.29-6317_29-6316insATATATATATGTATATATATATATATATATATAT NM_001143774.2:c.29-6317_29-6316insATATATATGTATATATATATATATATATAT NM_001143774.2:c.29-6317_29-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant 1 NM_032439.3:c.107-6328= NM_032439.3:c.107-6328AT[5] NM_032439.3:c.107-6317_107-6316insACATATATATATATATATATAT NM_032439.3:c.107-6328AT[7] NM_032439.3:c.107-6328AT[8] NM_032439.3:c.107-6328AT[9] NM_032439.3:c.107-6328AT[10] NM_032439.3:c.107-6328AT[11] NM_032439.3:c.107-6317_107-6316insATATATATATAGATATATATATATATATATATATAT NM_032439.3:c.107-6328AT[12] NM_032439.3:c.107-6328AT[13] NM_032439.3:c.107-6328AT[14] NM_032439.3:c.107-6328AT[15] NM_032439.3:c.107-6328AT[16] NM_032439.3:c.107-6328AT[17] NM_032439.3:c.107-6328AT[18] NM_032439.3:c.107-6328AT[19] NM_032439.3:c.107-6328AT[20] NM_032439.3:c.107-6328AT[21] NM_032439.3:c.107-6328AT[22] NM_032439.3:c.107-6328AT[23] NM_032439.3:c.107-6328AT[24] NM_032439.3:c.107-6328AT[25] NM_032439.3:c.107-6328AT[26] NM_032439.3:c.107-6328AT[27] NM_032439.3:c.107-6328AT[29] NM_032439.3:c.107-6317_107-6316insATATATATATATGTATATATATATATATATATAT NM_032439.3:c.107-6317_107-6316insATATATATATGTATATATATATATATATATAT NM_032439.3:c.107-6317_107-6316insATATATATATGTATATATATATATATATATATAT NM_032439.3:c.107-6317_107-6316insATATATATGTATATATATATATATATATAT NM_032439.3:c.107-6317_107-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant 1 NM_032439.4:c.107-6328= NM_032439.4:c.107-6328AT[5] NM_032439.4:c.107-6317_107-6316insACATATATATATATATATATAT NM_032439.4:c.107-6328AT[7] NM_032439.4:c.107-6328AT[8] NM_032439.4:c.107-6328AT[9] NM_032439.4:c.107-6328AT[10] NM_032439.4:c.107-6328AT[11] NM_032439.4:c.107-6317_107-6316insATATATATATAGATATATATATATATATATATATAT NM_032439.4:c.107-6328AT[12] NM_032439.4:c.107-6328AT[13] NM_032439.4:c.107-6328AT[14] NM_032439.4:c.107-6328AT[15] NM_032439.4:c.107-6328AT[16] NM_032439.4:c.107-6328AT[17] NM_032439.4:c.107-6328AT[18] NM_032439.4:c.107-6328AT[19] NM_032439.4:c.107-6328AT[20] NM_032439.4:c.107-6328AT[21] NM_032439.4:c.107-6328AT[22] NM_032439.4:c.107-6328AT[23] NM_032439.4:c.107-6328AT[24] NM_032439.4:c.107-6328AT[25] NM_032439.4:c.107-6328AT[26] NM_032439.4:c.107-6328AT[27] NM_032439.4:c.107-6328AT[29] NM_032439.4:c.107-6317_107-6316insATATATATATATGTATATATATATATATATATAT NM_032439.4:c.107-6317_107-6316insATATATATATGTATATATATATATATATATAT NM_032439.4:c.107-6317_107-6316insATATATATATGTATATATATATATATATATATAT NM_032439.4:c.107-6317_107-6316insATATATATGTATATATATATATATATATAT NM_032439.4:c.107-6317_107-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant X1 XM_005270226.1:c.14-6328= XM_005270226.1:c.14-6328AT[5] XM_005270226.1:c.14-6317_14-6316insACATATATATATATATATATAT XM_005270226.1:c.14-6328AT[7] XM_005270226.1:c.14-6328AT[8] XM_005270226.1:c.14-6328AT[9] XM_005270226.1:c.14-6328AT[10] XM_005270226.1:c.14-6328AT[11] XM_005270226.1:c.14-6317_14-6316insATATATATATAGATATATATATATATATATATATAT XM_005270226.1:c.14-6328AT[12] XM_005270226.1:c.14-6328AT[13] XM_005270226.1:c.14-6328AT[14] XM_005270226.1:c.14-6328AT[15] XM_005270226.1:c.14-6328AT[16] XM_005270226.1:c.14-6328AT[17] XM_005270226.1:c.14-6328AT[18] XM_005270226.1:c.14-6328AT[19] XM_005270226.1:c.14-6328AT[20] XM_005270226.1:c.14-6328AT[21] XM_005270226.1:c.14-6328AT[22] XM_005270226.1:c.14-6328AT[23] XM_005270226.1:c.14-6328AT[24] XM_005270226.1:c.14-6328AT[25] XM_005270226.1:c.14-6328AT[26] XM_005270226.1:c.14-6328AT[27] XM_005270226.1:c.14-6328AT[29] XM_005270226.1:c.14-6317_14-6316insATATATATATATGTATATATATATATATATATAT XM_005270226.1:c.14-6317_14-6316insATATATATATGTATATATATATATATATATAT XM_005270226.1:c.14-6317_14-6316insATATATATATGTATATATATATATATATATATAT XM_005270226.1:c.14-6317_14-6316insATATATATGTATATATATATATATATATAT XM_005270226.1:c.14-6317_14-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant X2 XM_005270227.1:c.-33+6292= XM_005270227.1:c.-33+6292AT[5] XM_005270227.1:c.-33+6303_-33+6304insACATATATATATATATATATAT XM_005270227.1:c.-33+6292AT[7] XM_005270227.1:c.-33+6292AT[8] XM_005270227.1:c.-33+6292AT[9] XM_005270227.1:c.-33+6292AT[10] XM_005270227.1:c.-33+6292AT[11] XM_005270227.1:c.-33+6303_-33+6304insATATATATATAGATATATATATATATATATATATAT XM_005270227.1:c.-33+6292AT[12] XM_005270227.1:c.-33+6292AT[13] XM_005270227.1:c.-33+6292AT[14] XM_005270227.1:c.-33+6292AT[15] XM_005270227.1:c.-33+6292AT[16] XM_005270227.1:c.-33+6292AT[17] XM_005270227.1:c.-33+6292AT[18] XM_005270227.1:c.-33+6292AT[19] XM_005270227.1:c.-33+6292AT[20] XM_005270227.1:c.-33+6292AT[21] XM_005270227.1:c.-33+6292AT[22] XM_005270227.1:c.-33+6292AT[23] XM_005270227.1:c.-33+6292AT[24] XM_005270227.1:c.-33+6292AT[25] XM_005270227.1:c.-33+6292AT[26] XM_005270227.1:c.-33+6292AT[27] XM_005270227.1:c.-33+6292AT[29] XM_005270227.1:c.-33+6303_-33+6304insATATATATATATGTATATATATATATATATATAT XM_005270227.1:c.-33+6303_-33+6304insATATATATATGTATATATATATATATATATAT XM_005270227.1:c.-33+6303_-33+6304insATATATATATGTATATATATATATATATATATAT XM_005270227.1:c.-33+6303_-33+6304insATATATATGTATATATATATATATATATAT XM_005270227.1:c.-33+6303_-33+6304insATATGTATATATATATATATATATAT
PHYHIPL transcript variant X3 XM_005270228.1:c.-32-6328= XM_005270228.1:c.-32-6328AT[5] XM_005270228.1:c.-32-6317_-32-6316insACATATATATATATATATATAT XM_005270228.1:c.-32-6328AT[7] XM_005270228.1:c.-32-6328AT[8] XM_005270228.1:c.-32-6328AT[9] XM_005270228.1:c.-32-6328AT[10] XM_005270228.1:c.-32-6328AT[11] XM_005270228.1:c.-32-6317_-32-6316insATATATATATAGATATATATATATATATATATATAT XM_005270228.1:c.-32-6328AT[12] XM_005270228.1:c.-32-6328AT[13] XM_005270228.1:c.-32-6328AT[14] XM_005270228.1:c.-32-6328AT[15] XM_005270228.1:c.-32-6328AT[16] XM_005270228.1:c.-32-6328AT[17] XM_005270228.1:c.-32-6328AT[18] XM_005270228.1:c.-32-6328AT[19] XM_005270228.1:c.-32-6328AT[20] XM_005270228.1:c.-32-6328AT[21] XM_005270228.1:c.-32-6328AT[22] XM_005270228.1:c.-32-6328AT[23] XM_005270228.1:c.-32-6328AT[24] XM_005270228.1:c.-32-6328AT[25] XM_005270228.1:c.-32-6328AT[26] XM_005270228.1:c.-32-6328AT[27] XM_005270228.1:c.-32-6328AT[29] XM_005270228.1:c.-32-6317_-32-6316insATATATATATATGTATATATATATATATATATAT XM_005270228.1:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATAT XM_005270228.1:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATATAT XM_005270228.1:c.-32-6317_-32-6316insATATATATGTATATATATATATATATATAT XM_005270228.1:c.-32-6317_-32-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant X2 XM_011540275.4:c.-32-6328= XM_011540275.4:c.-32-6328AT[5] XM_011540275.4:c.-32-6317_-32-6316insACATATATATATATATATATAT XM_011540275.4:c.-32-6328AT[7] XM_011540275.4:c.-32-6328AT[8] XM_011540275.4:c.-32-6328AT[9] XM_011540275.4:c.-32-6328AT[10] XM_011540275.4:c.-32-6328AT[11] XM_011540275.4:c.-32-6317_-32-6316insATATATATATAGATATATATATATATATATATATAT XM_011540275.4:c.-32-6328AT[12] XM_011540275.4:c.-32-6328AT[13] XM_011540275.4:c.-32-6328AT[14] XM_011540275.4:c.-32-6328AT[15] XM_011540275.4:c.-32-6328AT[16] XM_011540275.4:c.-32-6328AT[17] XM_011540275.4:c.-32-6328AT[18] XM_011540275.4:c.-32-6328AT[19] XM_011540275.4:c.-32-6328AT[20] XM_011540275.4:c.-32-6328AT[21] XM_011540275.4:c.-32-6328AT[22] XM_011540275.4:c.-32-6328AT[23] XM_011540275.4:c.-32-6328AT[24] XM_011540275.4:c.-32-6328AT[25] XM_011540275.4:c.-32-6328AT[26] XM_011540275.4:c.-32-6328AT[27] XM_011540275.4:c.-32-6328AT[29] XM_011540275.4:c.-32-6317_-32-6316insATATATATATATGTATATATATATATATATATAT XM_011540275.4:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATAT XM_011540275.4:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATATAT XM_011540275.4:c.-32-6317_-32-6316insATATATATGTATATATATATATATATATAT XM_011540275.4:c.-32-6317_-32-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant X1 XM_011540276.4:c.-32-6328= XM_011540276.4:c.-32-6328AT[5] XM_011540276.4:c.-32-6317_-32-6316insACATATATATATATATATATAT XM_011540276.4:c.-32-6328AT[7] XM_011540276.4:c.-32-6328AT[8] XM_011540276.4:c.-32-6328AT[9] XM_011540276.4:c.-32-6328AT[10] XM_011540276.4:c.-32-6328AT[11] XM_011540276.4:c.-32-6317_-32-6316insATATATATATAGATATATATATATATATATATATAT XM_011540276.4:c.-32-6328AT[12] XM_011540276.4:c.-32-6328AT[13] XM_011540276.4:c.-32-6328AT[14] XM_011540276.4:c.-32-6328AT[15] XM_011540276.4:c.-32-6328AT[16] XM_011540276.4:c.-32-6328AT[17] XM_011540276.4:c.-32-6328AT[18] XM_011540276.4:c.-32-6328AT[19] XM_011540276.4:c.-32-6328AT[20] XM_011540276.4:c.-32-6328AT[21] XM_011540276.4:c.-32-6328AT[22] XM_011540276.4:c.-32-6328AT[23] XM_011540276.4:c.-32-6328AT[24] XM_011540276.4:c.-32-6328AT[25] XM_011540276.4:c.-32-6328AT[26] XM_011540276.4:c.-32-6328AT[27] XM_011540276.4:c.-32-6328AT[29] XM_011540276.4:c.-32-6317_-32-6316insATATATATATATGTATATATATATATATATATAT XM_011540276.4:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATAT XM_011540276.4:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATATAT XM_011540276.4:c.-32-6317_-32-6316insATATATATGTATATATATATATATATATAT XM_011540276.4:c.-32-6317_-32-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant X4 XM_017016782.2:c.-32-6328= XM_017016782.2:c.-32-6328AT[5] XM_017016782.2:c.-32-6317_-32-6316insACATATATATATATATATATAT XM_017016782.2:c.-32-6328AT[7] XM_017016782.2:c.-32-6328AT[8] XM_017016782.2:c.-32-6328AT[9] XM_017016782.2:c.-32-6328AT[10] XM_017016782.2:c.-32-6328AT[11] XM_017016782.2:c.-32-6317_-32-6316insATATATATATAGATATATATATATATATATATATAT XM_017016782.2:c.-32-6328AT[12] XM_017016782.2:c.-32-6328AT[13] XM_017016782.2:c.-32-6328AT[14] XM_017016782.2:c.-32-6328AT[15] XM_017016782.2:c.-32-6328AT[16] XM_017016782.2:c.-32-6328AT[17] XM_017016782.2:c.-32-6328AT[18] XM_017016782.2:c.-32-6328AT[19] XM_017016782.2:c.-32-6328AT[20] XM_017016782.2:c.-32-6328AT[21] XM_017016782.2:c.-32-6328AT[22] XM_017016782.2:c.-32-6328AT[23] XM_017016782.2:c.-32-6328AT[24] XM_017016782.2:c.-32-6328AT[25] XM_017016782.2:c.-32-6328AT[26] XM_017016782.2:c.-32-6328AT[27] XM_017016782.2:c.-32-6328AT[29] XM_017016782.2:c.-32-6317_-32-6316insATATATATATATGTATATATATATATATATATAT XM_017016782.2:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATAT XM_017016782.2:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATATAT XM_017016782.2:c.-32-6317_-32-6316insATATATATGTATATATATATATATATATAT XM_017016782.2:c.-32-6317_-32-6316insATATGTATATATATATATATATATAT
PHYHIPL transcript variant X3 XM_017016783.3:c.-32-6328= XM_017016783.3:c.-32-6328AT[5] XM_017016783.3:c.-32-6317_-32-6316insACATATATATATATATATATAT XM_017016783.3:c.-32-6328AT[7] XM_017016783.3:c.-32-6328AT[8] XM_017016783.3:c.-32-6328AT[9] XM_017016783.3:c.-32-6328AT[10] XM_017016783.3:c.-32-6328AT[11] XM_017016783.3:c.-32-6317_-32-6316insATATATATATAGATATATATATATATATATATATAT XM_017016783.3:c.-32-6328AT[12] XM_017016783.3:c.-32-6328AT[13] XM_017016783.3:c.-32-6328AT[14] XM_017016783.3:c.-32-6328AT[15] XM_017016783.3:c.-32-6328AT[16] XM_017016783.3:c.-32-6328AT[17] XM_017016783.3:c.-32-6328AT[18] XM_017016783.3:c.-32-6328AT[19] XM_017016783.3:c.-32-6328AT[20] XM_017016783.3:c.-32-6328AT[21] XM_017016783.3:c.-32-6328AT[22] XM_017016783.3:c.-32-6328AT[23] XM_017016783.3:c.-32-6328AT[24] XM_017016783.3:c.-32-6328AT[25] XM_017016783.3:c.-32-6328AT[26] XM_017016783.3:c.-32-6328AT[27] XM_017016783.3:c.-32-6328AT[29] XM_017016783.3:c.-32-6317_-32-6316insATATATATATATGTATATATATATATATATATAT XM_017016783.3:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATAT XM_017016783.3:c.-32-6317_-32-6316insATATATATATGTATATATATATATATATATATAT XM_017016783.3:c.-32-6317_-32-6316insATATATATGTATATATATATATATATATAT XM_017016783.3:c.-32-6317_-32-6316insATATGTATATATATATATATATATAT
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

53 SubSNP, 41 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss327704508 May 09, 2011 (135)
2 LUNTER ss552277570 Apr 25, 2013 (138)
3 1000GENOMES ss1369589720 Aug 21, 2014 (142)
4 1000GENOMES ss1369589721 Aug 21, 2014 (142)
5 EVA_UK10K_ALSPAC ss1706760683 Jan 10, 2018 (151)
6 EVA_UK10K_TWINSUK ss1706760718 Jan 10, 2018 (151)
7 SWEGEN ss3006555057 Nov 08, 2017 (151)
8 SWEGEN ss3006555059 Nov 08, 2017 (151)
9 MCHAISSO ss3065385826 Nov 08, 2017 (151)
10 ACPOP ss3737363106 Jul 13, 2019 (153)
11 ACPOP ss3737363108 Jul 13, 2019 (153)
12 KHV_HUMAN_GENOMES ss3813534563 Jul 13, 2019 (153)
13 KHV_HUMAN_GENOMES ss3813534564 Jul 13, 2019 (153)
14 KOGIC ss3967972617 Apr 26, 2020 (154)
15 KOGIC ss3967972622 Apr 26, 2020 (154)
16 GNOMAD ss4219345286 Apr 26, 2021 (155)
17 GNOMAD ss4219345295 Apr 26, 2021 (155)
18 GNOMAD ss4219345299 Apr 26, 2021 (155)
19 GNOMAD ss4219345300 Apr 26, 2021 (155)
20 GNOMAD ss4219345301 Apr 26, 2021 (155)
21 GNOMAD ss4219345302 Apr 26, 2021 (155)
22 GNOMAD ss4219345303 Apr 26, 2021 (155)
23 GNOMAD ss4219345304 Apr 26, 2021 (155)
24 GNOMAD ss4219345305 Apr 26, 2021 (155)
25 GNOMAD ss4219345306 Apr 26, 2021 (155)
26 GNOMAD ss4219345307 Apr 26, 2021 (155)
27 GNOMAD ss4219345308 Apr 26, 2021 (155)
28 GNOMAD ss4219345309 Apr 26, 2021 (155)
29 GNOMAD ss4219345310 Apr 26, 2021 (155)
30 GNOMAD ss4219345311 Apr 26, 2021 (155)
31 GNOMAD ss4219345312 Apr 26, 2021 (155)
32 GNOMAD ss4219345313 Apr 26, 2021 (155)
33 GNOMAD ss4219345314 Apr 26, 2021 (155)
34 GNOMAD ss4219345315 Apr 26, 2021 (155)
35 GNOMAD ss4219345316 Apr 26, 2021 (155)
36 GNOMAD ss4219345317 Apr 26, 2021 (155)
37 GNOMAD ss4219345318 Apr 26, 2021 (155)
38 GNOMAD ss4219345319 Apr 26, 2021 (155)
39 GNOMAD ss4219345320 Apr 26, 2021 (155)
40 GNOMAD ss4219345321 Apr 26, 2021 (155)
41 GNOMAD ss4219345322 Apr 26, 2021 (155)
42 GNOMAD ss4219345323 Apr 26, 2021 (155)
43 GNOMAD ss4219345324 Apr 26, 2021 (155)
44 GNOMAD ss4219345328 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5197844067 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5197844070 Apr 26, 2021 (155)
47 HUGCELL_USP ss5479771557 Oct 16, 2022 (156)
48 HUGCELL_USP ss5479771560 Oct 16, 2022 (156)
49 HUGCELL_USP ss5479771561 Oct 16, 2022 (156)
50 HUGCELL_USP ss5479771562 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5743735213 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5743735217 Oct 16, 2022 (156)
53 EVA ss5849586496 Oct 16, 2022 (156)
54 1000Genomes NC_000010.10 - 60987736 Oct 12, 2018 (152)
55 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 60987736 Oct 12, 2018 (152)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353563779 (NC_000010.11:59227975::AT 23/133914)
Row 353563788 (NC_000010.11:59227975::ATAT 978/133914)
Row 353563792 (NC_000010.11:59227975::ATATAT 370/133912)...

- Apr 26, 2021 (155)
85 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24350618 (NC_000010.11:59227975::ATATATATATATATATATATATAT 19/1830)
Row 24350623 (NC_000010.11:59227975::ATATATATATATATATATATAT 25/1830)

- Apr 26, 2020 (154)
86 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24350618 (NC_000010.11:59227975::ATATATATATATATATATATATAT 19/1830)
Row 24350623 (NC_000010.11:59227975::ATATATATATATATATATATAT 25/1830)

- Apr 26, 2020 (154)
87 Northern Sweden

Submission ignored due to conflicting rows:
Row 10647971 (NC_000010.10:60987735::ATATATATATATATATATATAT 5/600)
Row 10647973 (NC_000010.10:60987735::ATATATATATATATATATATATATATAT 22/600)

- Jul 13, 2019 (153)
88 Northern Sweden

Submission ignored due to conflicting rows:
Row 10647971 (NC_000010.10:60987735::ATATATATATATATATATATAT 5/600)
Row 10647973 (NC_000010.10:60987735::ATATATATATATATATATATATATATAT 22/600)

- Jul 13, 2019 (153)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 55813374 (NC_000010.10:60987735::ATATATATATATATATATATATATAT 355/16760)
Row 55813377 (NC_000010.10:60987735::ATATATATATATATATATATAT 274/16760)

- Apr 26, 2021 (155)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 55813374 (NC_000010.10:60987735::ATATATATATATATATATATATATAT 355/16760)
Row 55813377 (NC_000010.10:60987735::ATATATATATATATATATATAT 274/16760)

- Apr 26, 2021 (155)
91 14KJPN

Submission ignored due to conflicting rows:
Row 77572317 (NC_000010.11:59227975::ATATATATATATATATATATAT 468/28258)
Row 77572321 (NC_000010.11:59227975::ATATATATATATATATATATATATAT 565/28258)

- Oct 16, 2022 (156)
92 14KJPN

Submission ignored due to conflicting rows:
Row 77572317 (NC_000010.11:59227975::ATATATATATATATATATATAT 468/28258)
Row 77572321 (NC_000010.11:59227975::ATATATATATATATATATATATATAT 565/28258)

- Oct 16, 2022 (156)
93 UK 10K study - Twins NC_000010.10 - 60987736 Oct 12, 2018 (152)
94 ALFA NC_000010.11 - 59227976 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs146185460 Oct 05, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
27760371, 27760371, ss1706760683, ss1706760718 NC_000010.10:60987735:AT: NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATAT

(self)
ss4219345328 NC_000010.11:59227975:AT: NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATAT

(self)
ss4219345303 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATACATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATACATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATACATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATACATATATATATATATATATAT

(self)
ss4219345286 NC_000010.11:59227975::AT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATAT

(self)
ss327704508, ss552277570 NC_000010.9:60657741::ATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATAT

(self)
50019208, ss1369589720 NC_000010.10:60987735::ATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATAT

(self)
ss3813534563, ss4219345295, ss5479771561 NC_000010.11:59227975::ATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATAT

(self)
50019208, ss1369589721 NC_000010.10:60987735::ATATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATAT

(self)
ss3813534564, ss4219345299 NC_000010.11:59227975::ATATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATAT

(self)
ss4219345300 NC_000010.11:59227975::ATATATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATAT

(self)
ss4219345301 NC_000010.11:59227975::ATATATATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATAT

(self)
ss4219345309 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATAGATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATAGATATATATATATATATATATATAT

(self)
ss4219345302 NC_000010.11:59227975::ATATATATATAT NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATAT

(self)
ss4219345304 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATAT

(self)
ss4219345305, ss5479771562 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATAT

(self)
ss4219345306 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATAT

(self)
ss4219345307 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATAT

(self)
ss3006555059, ss3737363106, ss5197844070 NC_000010.10:60987735::ATATATATATA…

NC_000010.10:60987735::ATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATAT

(self)
ss3967972622, ss4219345308, ss5479771557, ss5743735213, ss5849586496 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATAT

(self)
ss3967972617, ss4219345310, ss5479771560 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATAT

(self)
ss5197844067 NC_000010.10:60987735::ATATATATATA…

NC_000010.10:60987735::ATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345311, ss5743735217 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATAT

(self)
ss3006555057, ss3737363108 NC_000010.10:60987735::ATATATATATA…

NC_000010.10:60987735::ATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345312 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345313 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT

(self)
ss3065385826, ss4219345314 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345315 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345316 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345317 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345318 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345319 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345320 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT

(self)
ss4219345321 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATATGTATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATGTATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATGTATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATGTATATATATATATATATATAT

(self)
ss4219345322 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATGTATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATAT

(self)
ss4219345323 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATATGTATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATATAT

(self)
ss4219345324 NC_000010.11:59227975::ATATATATATA…

NC_000010.11:59227975::ATATATATATATATATATATGTATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATAT

(self)
3593840639 NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATGTATATATATATATATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATGTATATATATATATATATATAT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2136347806 NC_000010.10:60987735::ATATATATATA…

NC_000010.10:60987735::ATATATATATATATATATATGTATATATAT

NC_000010.11:59227975:ATATATATATAT…

NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATAT

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1554799094

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d