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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.

rs11467250

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:43571065-43571102 (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
del(GT)8 / del(GT)7 / del(GT)6 / d…

del(GT)8 / del(GT)7 / del(GT)6 / del(GT)5 / del(GT)4 / del(GT)3 / delGTGT / delGT / dupGT / dupGTGT / dup(GT)3 / dup(GT)4 / dup(GT)5 / dup(GT)6 / dup(GT)7 / dup(GT)8 / dup(GT)9 / dup(GT)10 / dup(GT)11

Variation Type
Indel Insertion and Deletion
Frequency
(GT)19=0.23871 (3167/13267, ALFA)
(GT)19=0.2748 (1376/5008, 1000G)
(GT)19=0.2820 (1087/3854, ALSPAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SGK2 : 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 13267 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.23871 GTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.13763, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.51406, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.10960, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000 0.190779 0.343084 0.466137 4
European Sub 10123 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.21871 GTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.12170, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.54500, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.11459, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000 0.139089 0.41207 0.448841 2
African Sub 853 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.501 GTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.128, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.294, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.077, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000 0.638889 0.035714 0.325397 0
African Others Sub 26 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.81 GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.04, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.12, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.04, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 0.818182 0.0 0.181818 0
African American Sub 827 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.491 GTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.131, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.300, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.079, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000 0.630705 0.037344 0.33195 0
Asian Sub 67 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.34 GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.22, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.37, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.06, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 0.428571 0.0 0.571429 2
East Asian Sub 32 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.38 GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.19, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.38, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.06, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 0.375 0.0 0.625 1
Other Asian Sub 35 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.31 GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.26, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.37, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.06, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 0.5 0.0 0.5 0
Latin American 1 Sub 10 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0 GTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 46 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 4 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0 GTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0 1.0 0.0 0.0 N/A
Other Sub 2164 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.2047 GTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.2172, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.4746, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1035, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000 0.158501 0.112392 0.729107 32


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 13267 (GT)19=0.23871 del(GT)8=0.00000, del(GT)7=0.00000, del(GT)6=0.00000, del(GT)5=0.00000, del(GT)4=0.00000, del(GT)3=0.13763, delGTGT=0.51406, delGT=0.10960, dupGT=0.00000, dupGTGT=0.00000, dup(GT)3=0.00000, dup(GT)4=0.00000, dup(GT)5=0.00000, dup(GT)6=0.00000, dup(GT)7=0.00000, dup(GT)8=0.00000, dup(GT)9=0.00000, dup(GT)10=0.00000
Allele Frequency Aggregator European Sub 10123 (GT)19=0.21871 del(GT)8=0.00000, del(GT)7=0.00000, del(GT)6=0.00000, del(GT)5=0.00000, del(GT)4=0.00000, del(GT)3=0.12170, delGTGT=0.54500, delGT=0.11459, dupGT=0.00000, dupGTGT=0.00000, dup(GT)3=0.00000, dup(GT)4=0.00000, dup(GT)5=0.00000, dup(GT)6=0.00000, dup(GT)7=0.00000, dup(GT)8=0.00000, dup(GT)9=0.00000, dup(GT)10=0.00000
Allele Frequency Aggregator Other Sub 2164 (GT)19=0.2047 del(GT)8=0.0000, del(GT)7=0.0000, del(GT)6=0.0000, del(GT)5=0.0000, del(GT)4=0.0000, del(GT)3=0.2172, delGTGT=0.4746, delGT=0.1035, dupGT=0.0000, dupGTGT=0.0000, dup(GT)3=0.0000, dup(GT)4=0.0000, dup(GT)5=0.0000, dup(GT)6=0.0000, dup(GT)7=0.0000, dup(GT)8=0.0000, dup(GT)9=0.0000, dup(GT)10=0.0000
Allele Frequency Aggregator African Sub 853 (GT)19=0.501 del(GT)8=0.000, del(GT)7=0.000, del(GT)6=0.000, del(GT)5=0.000, del(GT)4=0.000, del(GT)3=0.128, delGTGT=0.294, delGT=0.077, dupGT=0.000, dupGTGT=0.000, dup(GT)3=0.000, dup(GT)4=0.000, dup(GT)5=0.000, dup(GT)6=0.000, dup(GT)7=0.000, dup(GT)8=0.000, dup(GT)9=0.000, dup(GT)10=0.000
Allele Frequency Aggregator Asian Sub 67 (GT)19=0.34 del(GT)8=0.00, del(GT)7=0.00, del(GT)6=0.00, del(GT)5=0.00, del(GT)4=0.00, del(GT)3=0.22, delGTGT=0.37, delGT=0.06, dupGT=0.00, dupGTGT=0.00, dup(GT)3=0.00, dup(GT)4=0.00, dup(GT)5=0.00, dup(GT)6=0.00, dup(GT)7=0.00, dup(GT)8=0.00, dup(GT)9=0.00, dup(GT)10=0.00
Allele Frequency Aggregator Latin American 2 Sub 46 (GT)19=1.00 del(GT)8=0.00, del(GT)7=0.00, del(GT)6=0.00, del(GT)5=0.00, del(GT)4=0.00, del(GT)3=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)3=0.00, dup(GT)4=0.00, dup(GT)5=0.00, dup(GT)6=0.00, dup(GT)7=0.00, dup(GT)8=0.00, dup(GT)9=0.00, dup(GT)10=0.00
Allele Frequency Aggregator Latin American 1 Sub 10 (GT)19=1.0 del(GT)8=0.0, del(GT)7=0.0, del(GT)6=0.0, del(GT)5=0.0, del(GT)4=0.0, del(GT)3=0.0, delGTGT=0.0, delGT=0.0, dupGT=0.0, dupGTGT=0.0, dup(GT)3=0.0, dup(GT)4=0.0, dup(GT)5=0.0, dup(GT)6=0.0, dup(GT)7=0.0, dup(GT)8=0.0, dup(GT)9=0.0, dup(GT)10=0.0
Allele Frequency Aggregator South Asian Sub 4 (GT)19=1.0 del(GT)8=0.0, del(GT)7=0.0, del(GT)6=0.0, del(GT)5=0.0, del(GT)4=0.0, del(GT)3=0.0, delGTGT=0.0, delGT=0.0, dupGT=0.0, dupGTGT=0.0, dup(GT)3=0.0, dup(GT)4=0.0, dup(GT)5=0.0, dup(GT)6=0.0, dup(GT)7=0.0, dup(GT)8=0.0, dup(GT)9=0.0, dup(GT)10=0.0
1000Genomes Global Study-wide 5008 (GT)19=0.2748 delGTGT=0.7252
1000Genomes African Sub 1322 (GT)19=0.4304 delGTGT=0.5696
1000Genomes East Asian Sub 1008 (GT)19=0.2460 delGTGT=0.7540
1000Genomes Europe Sub 1006 (GT)19=0.2008 delGTGT=0.7992
1000Genomes South Asian Sub 978 (GT)19=0.188 delGTGT=0.812
1000Genomes American Sub 694 (GT)19=0.249 delGTGT=0.751
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (GT)19=0.2820 delGTGT=0.7180
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 20 NC_000020.11:g.43571065GT[11]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[12]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[13]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[14]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[15]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[16]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[17]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[18]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[20]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[21]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[22]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[23]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[24]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[25]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[26]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[27]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[28]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[29]
GRCh38.p14 chr 20 NC_000020.11:g.43571065GT[30]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[11]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[12]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[13]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[14]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[15]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[16]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[17]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[18]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[20]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[21]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[22]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[23]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[24]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[25]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[26]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[27]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[28]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[29]
GRCh37.p13 chr 20 NC_000020.10:g.42199705GT[30]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[11]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[12]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[13]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[14]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[15]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[16]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[17]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[18]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[20]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[21]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[22]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[23]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[24]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[25]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[26]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[27]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[28]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[29]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071GT[30]
Gene: SGK2, serum/glucocorticoid regulated kinase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SGK2 transcript variant 3 NM_001199264.2:c.510+5GT[…

NM_001199264.2:c.510+5GT[11]

N/A Intron Variant
SGK2 transcript variant 2 NM_016276.5:c.510+5GT[11] N/A Intron Variant
SGK2 transcript variant 1 NM_170693.3:c.510+5GT[11] 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.

Allele: delGTGT (allele ID: 778681 )
ClinVar Accession Disease Names Clinical Significance
RCV000948495.3 not provided Benign
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 (GT)19= del(GT)8 del(GT)7 del(GT)6 del(GT)5 del(GT)4 del(GT)3 delGTGT delGT dupGT dupGTGT dup(GT)3 dup(GT)4 dup(GT)5 dup(GT)6 dup(GT)7 dup(GT)8 dup(GT)9 dup(GT)10 dup(GT)11
GRCh38.p14 chr 20 NC_000020.11:g.43571065_43571102= NC_000020.11:g.43571065GT[11] NC_000020.11:g.43571065GT[12] NC_000020.11:g.43571065GT[13] NC_000020.11:g.43571065GT[14] NC_000020.11:g.43571065GT[15] NC_000020.11:g.43571065GT[16] NC_000020.11:g.43571065GT[17] NC_000020.11:g.43571065GT[18] NC_000020.11:g.43571065GT[20] NC_000020.11:g.43571065GT[21] NC_000020.11:g.43571065GT[22] NC_000020.11:g.43571065GT[23] NC_000020.11:g.43571065GT[24] NC_000020.11:g.43571065GT[25] NC_000020.11:g.43571065GT[26] NC_000020.11:g.43571065GT[27] NC_000020.11:g.43571065GT[28] NC_000020.11:g.43571065GT[29] NC_000020.11:g.43571065GT[30]
GRCh37.p13 chr 20 NC_000020.10:g.42199705_42199742= NC_000020.10:g.42199705GT[11] NC_000020.10:g.42199705GT[12] NC_000020.10:g.42199705GT[13] NC_000020.10:g.42199705GT[14] NC_000020.10:g.42199705GT[15] NC_000020.10:g.42199705GT[16] NC_000020.10:g.42199705GT[17] NC_000020.10:g.42199705GT[18] NC_000020.10:g.42199705GT[20] NC_000020.10:g.42199705GT[21] NC_000020.10:g.42199705GT[22] NC_000020.10:g.42199705GT[23] NC_000020.10:g.42199705GT[24] NC_000020.10:g.42199705GT[25] NC_000020.10:g.42199705GT[26] NC_000020.10:g.42199705GT[27] NC_000020.10:g.42199705GT[28] NC_000020.10:g.42199705GT[29] NC_000020.10:g.42199705GT[30]
SGK2 RefSeqGene (LRG_1050) NG_029448.2:g.17071_17108= NG_029448.2:g.17071GT[11] NG_029448.2:g.17071GT[12] NG_029448.2:g.17071GT[13] NG_029448.2:g.17071GT[14] NG_029448.2:g.17071GT[15] NG_029448.2:g.17071GT[16] NG_029448.2:g.17071GT[17] NG_029448.2:g.17071GT[18] NG_029448.2:g.17071GT[20] NG_029448.2:g.17071GT[21] NG_029448.2:g.17071GT[22] NG_029448.2:g.17071GT[23] NG_029448.2:g.17071GT[24] NG_029448.2:g.17071GT[25] NG_029448.2:g.17071GT[26] NG_029448.2:g.17071GT[27] NG_029448.2:g.17071GT[28] NG_029448.2:g.17071GT[29] NG_029448.2:g.17071GT[30]
SGK2 transcript variant 3 NM_001199264.1:c.510+5= NM_001199264.1:c.510+5GT[11] NM_001199264.1:c.510+5GT[12] NM_001199264.1:c.510+5GT[13] NM_001199264.1:c.510+5GT[14] NM_001199264.1:c.510+5GT[15] NM_001199264.1:c.510+5GT[16] NM_001199264.1:c.510+5GT[17] NM_001199264.1:c.510+5GT[18] NM_001199264.1:c.510+5GT[20] NM_001199264.1:c.510+5GT[21] NM_001199264.1:c.510+5GT[22] NM_001199264.1:c.510+5GT[23] NM_001199264.1:c.510+5GT[24] NM_001199264.1:c.510+5GT[25] NM_001199264.1:c.510+5GT[26] NM_001199264.1:c.510+5GT[27] NM_001199264.1:c.510+5GT[28] NM_001199264.1:c.510+5GT[29] NM_001199264.1:c.510+5GT[30]
SGK2 transcript variant 3 NM_001199264.2:c.510+5= NM_001199264.2:c.510+5GT[11] NM_001199264.2:c.510+5GT[12] NM_001199264.2:c.510+5GT[13] NM_001199264.2:c.510+5GT[14] NM_001199264.2:c.510+5GT[15] NM_001199264.2:c.510+5GT[16] NM_001199264.2:c.510+5GT[17] NM_001199264.2:c.510+5GT[18] NM_001199264.2:c.510+5GT[20] NM_001199264.2:c.510+5GT[21] NM_001199264.2:c.510+5GT[22] NM_001199264.2:c.510+5GT[23] NM_001199264.2:c.510+5GT[24] NM_001199264.2:c.510+5GT[25] NM_001199264.2:c.510+5GT[26] NM_001199264.2:c.510+5GT[27] NM_001199264.2:c.510+5GT[28] NM_001199264.2:c.510+5GT[29] NM_001199264.2:c.510+5GT[30]
SGK2 transcript variant 2 NM_016276.3:c.690+5= NM_016276.3:c.690+5GT[11] NM_016276.3:c.690+5GT[12] NM_016276.3:c.690+5GT[13] NM_016276.3:c.690+5GT[14] NM_016276.3:c.690+5GT[15] NM_016276.3:c.690+5GT[16] NM_016276.3:c.690+5GT[17] NM_016276.3:c.690+5GT[18] NM_016276.3:c.690+5GT[20] NM_016276.3:c.690+5GT[21] NM_016276.3:c.690+5GT[22] NM_016276.3:c.690+5GT[23] NM_016276.3:c.690+5GT[24] NM_016276.3:c.690+5GT[25] NM_016276.3:c.690+5GT[26] NM_016276.3:c.690+5GT[27] NM_016276.3:c.690+5GT[28] NM_016276.3:c.690+5GT[29] NM_016276.3:c.690+5GT[30]
SGK2 transcript variant 2 NM_016276.5:c.510+5= NM_016276.5:c.510+5GT[11] NM_016276.5:c.510+5GT[12] NM_016276.5:c.510+5GT[13] NM_016276.5:c.510+5GT[14] NM_016276.5:c.510+5GT[15] NM_016276.5:c.510+5GT[16] NM_016276.5:c.510+5GT[17] NM_016276.5:c.510+5GT[18] NM_016276.5:c.510+5GT[20] NM_016276.5:c.510+5GT[21] NM_016276.5:c.510+5GT[22] NM_016276.5:c.510+5GT[23] NM_016276.5:c.510+5GT[24] NM_016276.5:c.510+5GT[25] NM_016276.5:c.510+5GT[26] NM_016276.5:c.510+5GT[27] NM_016276.5:c.510+5GT[28] NM_016276.5:c.510+5GT[29] NM_016276.5:c.510+5GT[30]
SGK2 transcript variant 1 NM_170693.2:c.510+5= NM_170693.2:c.510+5GT[11] NM_170693.2:c.510+5GT[12] NM_170693.2:c.510+5GT[13] NM_170693.2:c.510+5GT[14] NM_170693.2:c.510+5GT[15] NM_170693.2:c.510+5GT[16] NM_170693.2:c.510+5GT[17] NM_170693.2:c.510+5GT[18] NM_170693.2:c.510+5GT[20] NM_170693.2:c.510+5GT[21] NM_170693.2:c.510+5GT[22] NM_170693.2:c.510+5GT[23] NM_170693.2:c.510+5GT[24] NM_170693.2:c.510+5GT[25] NM_170693.2:c.510+5GT[26] NM_170693.2:c.510+5GT[27] NM_170693.2:c.510+5GT[28] NM_170693.2:c.510+5GT[29] NM_170693.2:c.510+5GT[30]
SGK2 transcript variant 1 NM_170693.3:c.510+5= NM_170693.3:c.510+5GT[11] NM_170693.3:c.510+5GT[12] NM_170693.3:c.510+5GT[13] NM_170693.3:c.510+5GT[14] NM_170693.3:c.510+5GT[15] NM_170693.3:c.510+5GT[16] NM_170693.3:c.510+5GT[17] NM_170693.3:c.510+5GT[18] NM_170693.3:c.510+5GT[20] NM_170693.3:c.510+5GT[21] NM_170693.3:c.510+5GT[22] NM_170693.3:c.510+5GT[23] NM_170693.3:c.510+5GT[24] NM_170693.3:c.510+5GT[25] NM_170693.3:c.510+5GT[26] NM_170693.3:c.510+5GT[27] NM_170693.3:c.510+5GT[28] NM_170693.3:c.510+5GT[29] NM_170693.3:c.510+5GT[30]
SGK2 transcript variant X1 XM_005260243.1:c.588+5= XM_005260243.1:c.588+5GT[11] XM_005260243.1:c.588+5GT[12] XM_005260243.1:c.588+5GT[13] XM_005260243.1:c.588+5GT[14] XM_005260243.1:c.588+5GT[15] XM_005260243.1:c.588+5GT[16] XM_005260243.1:c.588+5GT[17] XM_005260243.1:c.588+5GT[18] XM_005260243.1:c.588+5GT[20] XM_005260243.1:c.588+5GT[21] XM_005260243.1:c.588+5GT[22] XM_005260243.1:c.588+5GT[23] XM_005260243.1:c.588+5GT[24] XM_005260243.1:c.588+5GT[25] XM_005260243.1:c.588+5GT[26] XM_005260243.1:c.588+5GT[27] XM_005260243.1:c.588+5GT[28] XM_005260243.1:c.588+5GT[29] XM_005260243.1:c.588+5GT[30]
SGK2 transcript variant X2 XM_005260244.1:c.507+5= XM_005260244.1:c.507+5GT[11] XM_005260244.1:c.507+5GT[12] XM_005260244.1:c.507+5GT[13] XM_005260244.1:c.507+5GT[14] XM_005260244.1:c.507+5GT[15] XM_005260244.1:c.507+5GT[16] XM_005260244.1:c.507+5GT[17] XM_005260244.1:c.507+5GT[18] XM_005260244.1:c.507+5GT[20] XM_005260244.1:c.507+5GT[21] XM_005260244.1:c.507+5GT[22] XM_005260244.1:c.507+5GT[23] XM_005260244.1:c.507+5GT[24] XM_005260244.1:c.507+5GT[25] XM_005260244.1:c.507+5GT[26] XM_005260244.1:c.507+5GT[27] XM_005260244.1:c.507+5GT[28] XM_005260244.1:c.507+5GT[29] XM_005260244.1:c.507+5GT[30]
SGK2 transcript variant X3 XM_005260245.1:c.507+5= XM_005260245.1:c.507+5GT[11] XM_005260245.1:c.507+5GT[12] XM_005260245.1:c.507+5GT[13] XM_005260245.1:c.507+5GT[14] XM_005260245.1:c.507+5GT[15] XM_005260245.1:c.507+5GT[16] XM_005260245.1:c.507+5GT[17] XM_005260245.1:c.507+5GT[18] XM_005260245.1:c.507+5GT[20] XM_005260245.1:c.507+5GT[21] XM_005260245.1:c.507+5GT[22] XM_005260245.1:c.507+5GT[23] XM_005260245.1:c.507+5GT[24] XM_005260245.1:c.507+5GT[25] XM_005260245.1:c.507+5GT[26] XM_005260245.1:c.507+5GT[27] XM_005260245.1:c.507+5GT[28] XM_005260245.1:c.507+5GT[29] XM_005260245.1:c.507+5GT[30]
SGK2 transcript variant X4 XM_005260246.1:c.510+5= XM_005260246.1:c.510+5GT[11] XM_005260246.1:c.510+5GT[12] XM_005260246.1:c.510+5GT[13] XM_005260246.1:c.510+5GT[14] XM_005260246.1:c.510+5GT[15] XM_005260246.1:c.510+5GT[16] XM_005260246.1:c.510+5GT[17] XM_005260246.1:c.510+5GT[18] XM_005260246.1:c.510+5GT[20] XM_005260246.1:c.510+5GT[21] XM_005260246.1:c.510+5GT[22] XM_005260246.1:c.510+5GT[23] XM_005260246.1:c.510+5GT[24] XM_005260246.1:c.510+5GT[25] XM_005260246.1:c.510+5GT[26] XM_005260246.1:c.510+5GT[27] XM_005260246.1:c.510+5GT[28] XM_005260246.1:c.510+5GT[29] XM_005260246.1:c.510+5GT[30]
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#.

69 SubSNP, 36 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEVINE_LAB ss15357872 Mar 15, 2016 (147)
2 HGSV ss82075992 Dec 15, 2007 (130)
3 GMI ss289412505 Jan 10, 2018 (151)
4 GMI ss289412506 May 04, 2012 (137)
5 PJP ss295049318 May 09, 2011 (135)
6 PJP ss295049319 May 09, 2011 (135)
7 1000GENOMES ss328064185 May 09, 2011 (135)
8 LUNTER ss552664186 Apr 25, 2013 (138)
9 SSMP ss664476668 Apr 01, 2015 (144)
10 1000GENOMES ss1378504461 Aug 21, 2014 (142)
11 DDI ss1536909264 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1709368520 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1709368608 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1710814703 Jan 10, 2018 (151)
15 EVA_UK10K_ALSPAC ss1710814708 Jan 10, 2018 (151)
16 SWEGEN ss3018225528 Nov 08, 2017 (151)
17 MCHAISSO ss3064856500 Nov 08, 2017 (151)
18 MCHAISSO ss3065819704 Nov 08, 2017 (151)
19 URBANLAB ss3651024198 Oct 12, 2018 (152)
20 ACPOP ss3743415373 Jul 13, 2019 (153)
21 ACPOP ss3743415374 Jul 13, 2019 (153)
22 ACPOP ss3743415375 Jul 13, 2019 (153)
23 PACBIO ss3788654214 Jul 13, 2019 (153)
24 PACBIO ss3793544431 Jul 13, 2019 (153)
25 PACBIO ss3798431393 Jul 13, 2019 (153)
26 KHV_HUMAN_GENOMES ss3821837561 Jul 13, 2019 (153)
27 KHV_HUMAN_GENOMES ss3821837562 Jul 13, 2019 (153)
28 EVA ss3835684889 Apr 27, 2020 (154)
29 KOGIC ss3982333975 Apr 27, 2020 (154)
30 KOGIC ss3982333976 Apr 27, 2020 (154)
31 KOGIC ss3982333977 Apr 27, 2020 (154)
32 GNOMAD ss4353886143 Apr 26, 2021 (155)
33 GNOMAD ss4353886168 Apr 26, 2021 (155)
34 GNOMAD ss4353886169 Apr 26, 2021 (155)
35 GNOMAD ss4353886170 Apr 26, 2021 (155)
36 GNOMAD ss4353886171 Apr 26, 2021 (155)
37 GNOMAD ss4353886172 Apr 26, 2021 (155)
38 GNOMAD ss4353886173 Apr 26, 2021 (155)
39 GNOMAD ss4353886174 Apr 26, 2021 (155)
40 GNOMAD ss4353886175 Apr 26, 2021 (155)
41 GNOMAD ss4353886176 Apr 26, 2021 (155)
42 GNOMAD ss4353886177 Apr 26, 2021 (155)
43 GNOMAD ss4353886178 Apr 26, 2021 (155)
44 GNOMAD ss4353886179 Apr 26, 2021 (155)
45 GNOMAD ss4353886180 Apr 26, 2021 (155)
46 GNOMAD ss4353886181 Apr 26, 2021 (155)
47 GNOMAD ss4353886182 Apr 26, 2021 (155)
48 GNOMAD ss4353886183 Apr 26, 2021 (155)
49 GNOMAD ss4353886184 Apr 26, 2021 (155)
50 GNOMAD ss4353886185 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5229772980 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5229772982 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5229772984 Apr 26, 2021 (155)
54 EVA ss5237252081 Apr 26, 2021 (155)
55 EVA ss5237252082 Apr 26, 2021 (155)
56 1000G_HIGH_COVERAGE ss5308894197 Oct 16, 2022 (156)
57 HUGCELL_USP ss5501163234 Oct 16, 2022 (156)
58 HUGCELL_USP ss5501163235 Oct 16, 2022 (156)
59 EVA ss5624113976 Oct 16, 2022 (156)
60 TOMMO_GENOMICS ss5789610993 Oct 16, 2022 (156)
61 TOMMO_GENOMICS ss5789610996 Oct 16, 2022 (156)
62 TOMMO_GENOMICS ss5789610997 Oct 16, 2022 (156)
63 EVA ss5800229804 Oct 16, 2022 (156)
64 EVA ss5845730213 Oct 16, 2022 (156)
65 EVA ss5845730215 Oct 16, 2022 (156)
66 EVA ss5845730216 Oct 16, 2022 (156)
67 EVA ss5848548842 Oct 16, 2022 (156)
68 EVA ss5853151405 Oct 16, 2022 (156)
69 EVA ss5981088619 Oct 16, 2022 (156)
70 1000Genomes NC_000020.10 - 42199705 Oct 12, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 42199705 Oct 12, 2018 (152)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 552667632 (NC_000020.11:43571064::GT 2218/136044)
Row 552667657 (NC_000020.11:43571064::GTGT 739/136062)
Row 552667658 (NC_000020.11:43571064::GTGTGT 233/136066)...

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

Submission ignored due to conflicting rows:
Row 38711976 (NC_000020.11:43571066:GTGT: 1052/1828)
Row 38711977 (NC_000020.11:43571068:GT: 90/1828)
Row 38711978 (NC_000020.11:43571064:GTGTGT: 152/1828)

- Apr 27, 2020 (154)
92 Korean Genome Project

Submission ignored due to conflicting rows:
Row 38711976 (NC_000020.11:43571066:GTGT: 1052/1828)
Row 38711977 (NC_000020.11:43571068:GT: 90/1828)
Row 38711978 (NC_000020.11:43571064:GTGTGT: 152/1828)

- Apr 27, 2020 (154)
93 Korean Genome Project

Submission ignored due to conflicting rows:
Row 38711976 (NC_000020.11:43571066:GTGT: 1052/1828)
Row 38711977 (NC_000020.11:43571068:GT: 90/1828)
Row 38711978 (NC_000020.11:43571064:GTGTGT: 152/1828)

- Apr 27, 2020 (154)
94 Northern Sweden

Submission ignored due to conflicting rows:
Row 16700238 (NC_000020.10:42199704:GTGT: 382/600)
Row 16700239 (NC_000020.10:42199704:GT: 70/600)
Row 16700240 (NC_000020.10:42199704:GTGTGTGT: 3/600)

- Jul 13, 2019 (153)
95 Northern Sweden

Submission ignored due to conflicting rows:
Row 16700238 (NC_000020.10:42199704:GTGT: 382/600)
Row 16700239 (NC_000020.10:42199704:GT: 70/600)
Row 16700240 (NC_000020.10:42199704:GTGTGTGT: 3/600)

- Jul 13, 2019 (153)
96 Northern Sweden

Submission ignored due to conflicting rows:
Row 16700238 (NC_000020.10:42199704:GTGT: 382/600)
Row 16700239 (NC_000020.10:42199704:GT: 70/600)
Row 16700240 (NC_000020.10:42199704:GTGTGTGT: 3/600)

- Jul 13, 2019 (153)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 87742287 (NC_000020.10:42199704:GT: 665/16690)
Row 87742289 (NC_000020.10:42199704:GTGT: 9484/16690)
Row 87742291 (NC_000020.10:42199704:GTGTGT: 94/16690)

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 87742287 (NC_000020.10:42199704:GT: 665/16690)
Row 87742289 (NC_000020.10:42199704:GTGT: 9484/16690)
Row 87742291 (NC_000020.10:42199704:GTGTGT: 94/16690)

- Apr 26, 2021 (155)
99 8.3KJPN

Submission ignored due to conflicting rows:
Row 87742287 (NC_000020.10:42199704:GT: 665/16690)
Row 87742289 (NC_000020.10:42199704:GTGT: 9484/16690)
Row 87742291 (NC_000020.10:42199704:GTGTGT: 94/16690)

- Apr 26, 2021 (155)
100 14KJPN

Submission ignored due to conflicting rows:
Row 123448097 (NC_000020.11:43571064:GTGT: 16078/28258)
Row 123448100 (NC_000020.11:43571064:GTGTGT: 124/28258)
Row 123448101 (NC_000020.11:43571064:GT: 1115/28258)

- Oct 16, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 123448097 (NC_000020.11:43571064:GTGT: 16078/28258)
Row 123448100 (NC_000020.11:43571064:GTGTGT: 124/28258)
Row 123448101 (NC_000020.11:43571064:GT: 1115/28258)

- Oct 16, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 123448097 (NC_000020.11:43571064:GTGT: 16078/28258)
Row 123448100 (NC_000020.11:43571064:GTGTGT: 124/28258)
Row 123448101 (NC_000020.11:43571064:GT: 1115/28258)

- Oct 16, 2022 (156)
103 UK 10K study - Twins - Oct 12, 2018 (152)
104 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 43372025 (NC_000020.10:42199704:GTGT: 2634/3708)
Row 43372026 (NC_000020.10:42199706:GT: 563/3708)

- Apr 27, 2020 (154)
105 ALFA NC_000020.11 - 43571065 Apr 26, 2021 (155)
106 ClinVar RCV000948495.3 Oct 16, 2022 (156)
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)
rs33924474 May 23, 2006 (127)
rs60850926 May 26, 2008 (130)
rs141303454 Sep 17, 2011 (135)
rs66990610 Feb 26, 2009 (130)
rs66990611 Feb 26, 2009 (130)
rs72125343 May 11, 2012 (137)
rs142245616 Sep 17, 2011 (135)
rs146563817 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4353886185 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGT:

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886184 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGT:

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886183 NC_000020.11:43571064:GTGTGTGTGTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886182 NC_000020.11:43571064:GTGTGTGTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3743415375 NC_000020.10:42199704:GTGTGTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5848548842 NC_000020.10:42199734:GTGTGTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

ss4353886181 NC_000020.11:43571064:GTGTGTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5229772984, ss5845730216 NC_000020.10:42199704:GTGTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3821837561, ss3982333977, ss4353886180, ss5789610996 NC_000020.11:43571064:GTGTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss289412506, ss295049318, ss328064185, ss552664186 NC_000020.9:41633118:GTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss82075992, ss295049319 NC_000020.9:41633152:GTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
78348185, 43372025, ss664476668, ss1378504461, ss1536909264, ss1709368520, ss1709368608, ss3018225528, ss3743415373, ss3788654214, ss3793544431, ss3798431393, ss5229772982, ss5624113976, ss5800229804, ss5845730213, ss5981088619 NC_000020.10:42199704:GTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3064856500, ss3065819704, ss3821837562, ss4353886179, ss5237252081, ss5308894197, ss5501163234, ss5789610993, ss5853151405 NC_000020.11:43571064:GTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
RCV000948495.3, 10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3982333975 NC_000020.11:43571066:GTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3651024198 NC_000020.11:43571078:GTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss15357872 NT_011362.10:12395830:GTGT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss289412505 NC_000020.9:41633118:GT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3743415374, ss3835684889, ss5229772980, ss5845730215 NC_000020.10:42199704:GT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss1710814703, ss1710814708 NC_000020.10:42199706:GT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886178, ss5501163235, ss5789610997 NC_000020.11:43571064:GT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3982333976 NC_000020.11:43571068:GT: NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886143 NC_000020.11:43571064::GT NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5237252082 NC_000020.11:43571068::GT NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886168 NC_000020.11:43571064::GTGT NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886169 NC_000020.11:43571064::GTGTGT NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886170 NC_000020.11:43571064::GTGTGTGT NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886171 NC_000020.11:43571064::GTGTGTGTGT NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886172 NC_000020.11:43571064::GTGTGTGTGTGT NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886173 NC_000020.11:43571064::GTGTGTGTGTG…

NC_000020.11:43571064::GTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886174 NC_000020.11:43571064::GTGTGTGTGTG…

NC_000020.11:43571064::GTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886175 NC_000020.11:43571064::GTGTGTGTGTG…

NC_000020.11:43571064::GTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886176 NC_000020.11:43571064::GTGTGTGTGTG…

NC_000020.11:43571064::GTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
10709563273 NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4353886177 NC_000020.11:43571064::GTGTGTGTGTG…

NC_000020.11:43571064::GTGTGTGTGTGTGTGTGTGTGT

NC_000020.11:43571064:GTGTGTGTGTGT…

NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
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 rs11467250

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