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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.

rs17244502

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:161223056-161223094 (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(AC)12 / del(AC)11 / del(AC)9 /…

del(AC)12 / del(AC)11 / del(AC)9 / del(AC)8 / del(AC)7 / del(AC)6 / del(AC)5 / del(AC)4 / del(AC)3 / delACAC / delAC / dupAC / dupACAC / dup(AC)3 / dup(AC)4 / dup(AC)5 / dup(AC)6 / dup(AC)8

Variation Type
Indel Insertion and Deletion
Frequency
del(AC)3=0.24959 (3654/14640, ALFA)
dupAC=0.09321 (1167/12520, GO-ESP)
del(AC)6=0.2203 (849/3854, ALSPAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
APOA2 : 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 14640 CACACACACACACACACACACACACACACACACACACAC=0.39194 CACACACACACACAC=0.00000, CACACACACACACACAC=0.00000, CACACACACACACACACACAC=0.00000, CACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACAC=0.01230, CACACACACACACACACACACACACAC=0.14522, CACACACACACACACACACACACACACAC=0.10683, CACACACACACACACACACACACACACACACAC=0.24959, CACACACACACACACACACACACACACACACACACAC=0.03969, CACACACACACACACACACACACACACACAC=0.03156, CACACACACACACACACACACACACACACACACACACACAC=0.01633, CACACACACACACACACACACACACACACACACAC=0.00410, CACACACACACACACACACACACACACACACACACACACACAC=0.00246, CACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000 0.416156 0.071042 0.512802 32
European Sub 11400 CACACACACACACACACACACACACACACACACACACAC=0.40088 CACACACACACACAC=0.00000, CACACACACACACACAC=0.00000, CACACACACACACACACACAC=0.00000, CACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACAC=0.01175, CACACACACACACACACACACACACAC=0.14070, CACACACACACACACACACACACACACAC=0.10825, CACACACACACACACACACACACACACACACAC=0.24789, CACACACACACACACACACACACACACACACACACAC=0.03465, CACACACACACACACACACACACACACACAC=0.02649, CACACACACACACACACACACACACACACACACACACACAC=0.02096, CACACACACACACACACACACACACACACACACAC=0.00526, CACACACACACACACACACACACACACACACACACACACACAC=0.00316, CACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00000 0.420726 0.082817 0.496457 18
African Sub 816 CACACACACACACACACACACACACACACACACACACAC=0.479 CACACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACACAC=0.000, CACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.012, CACACACACACACACACACACACACAC=0.121, CACACACACACACACACACACACACACAC=0.070, CACACACACACACACACACACACACACACACAC=0.222, CACACACACACACACACACACACACACACACACACAC=0.042, CACACACACACACACACACACACACACACAC=0.054, CACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000 0.638743 0.031414 0.329843 0
African Others Sub 14 CACACACACACACACACACACACACACACACACACACAC=0.50 CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.07, CACACACACACACACACACACACACACACACAC=0.29, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.14, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00 0.75 0.0 0.25 0
African American Sub 802 CACACACACACACACACACACACACACACACACACACAC=0.479 CACACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACACAC=0.000, CACACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.012, CACACACACACACACACACACACACAC=0.123, CACACACACACACACACACACACACACAC=0.070, CACACACACACACACACACACACACACACACAC=0.221, CACACACACACACACACACACACACACACACACACAC=0.042, CACACACACACACACACACACACACACACAC=0.052, CACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000 0.636364 0.032086 0.331551 0
Asian Sub 56 CACACACACACACACACACACACACACACACACACACAC=0.14 CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.02, CACACACACACACACACACACACACAC=0.23, CACACACACACACACACACACACACACAC=0.11, CACACACACACACACACACACACACACACACAC=0.41, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.09, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00 0.0 0.0 1.0 3
East Asian Sub 26 CACACACACACACACACACACACACACACACACACACAC=0.04 CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.27, CACACACACACACACACACACACACACAC=0.15, CACACACACACACACACACACACACACACACAC=0.46, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.08, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00 0 0 0 N/A
Other Asian Sub 30 CACACACACACACACACACACACACACACACACACACAC=0.23 CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.03, CACACACACACACACACACACACACAC=0.20, CACACACACACACACACACACACACACAC=0.07, CACACACACACACACACACACACACACACACAC=0.37, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.10, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00 0.0 0.0 1.0 3
Latin American 1 Sub 8 CACACACACACACACACACACACACACACACACACACAC=1.0 CACACACACACACAC=0.0, CACACACACACACACAC=0.0, CACACACACACACACACACAC=0.0, CACACACACACACACACACACAC=0.0, CACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 28 CACACACACACACACACACACACACACACACACACACAC=1.00 CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 CACACACACACACACACACACACACACACACACACACAC=1.0 CACACACACACACAC=0.0, CACACACACACACACAC=0.0, CACACACACACACACACACAC=0.0, CACACACACACACACACACACAC=0.0, CACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0 1.0 0.0 0.0 N/A
Other Sub 2330 CACACACACACACACACACACACACACACACACACACAC=0.3137 CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0150, CACACACACACACACACACACACACAC=0.1760, CACACACACACACACACACACACACACAC=0.1146, CACACACACACACACACACACACACACACACAC=0.2678, CACACACACACACACACACACACACACACACACACAC=0.0652, CACACACACACACACACACACACACACACAC=0.0476, CACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000 0.21 0.013333 0.776667 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 14640 (CA)19C=0.39194 del(AC)12=0.00000, del(AC)11=0.00000, del(AC)9=0.00000, del(AC)8=0.00000, del(AC)7=0.01230, del(AC)6=0.14522, del(AC)5=0.10683, del(AC)4=0.03156, del(AC)3=0.24959, delACAC=0.00410, delAC=0.03969, dupAC=0.01633, dupACAC=0.00246, dup(AC)3=0.00000, dup(AC)4=0.00000, dup(AC)5=0.00000, dup(AC)6=0.00000, dup(AC)8=0.00000
Allele Frequency Aggregator European Sub 11400 (CA)19C=0.40088 del(AC)12=0.00000, del(AC)11=0.00000, del(AC)9=0.00000, del(AC)8=0.00000, del(AC)7=0.01175, del(AC)6=0.14070, del(AC)5=0.10825, del(AC)4=0.02649, del(AC)3=0.24789, delACAC=0.00526, delAC=0.03465, dupAC=0.02096, dupACAC=0.00316, dup(AC)3=0.00000, dup(AC)4=0.00000, dup(AC)5=0.00000, dup(AC)6=0.00000, dup(AC)8=0.00000
Allele Frequency Aggregator Other Sub 2330 (CA)19C=0.3137 del(AC)12=0.0000, del(AC)11=0.0000, del(AC)9=0.0000, del(AC)8=0.0000, del(AC)7=0.0150, del(AC)6=0.1760, del(AC)5=0.1146, del(AC)4=0.0476, del(AC)3=0.2678, delACAC=0.0000, delAC=0.0652, dupAC=0.0000, dupACAC=0.0000, dup(AC)3=0.0000, dup(AC)4=0.0000, dup(AC)5=0.0000, dup(AC)6=0.0000, dup(AC)8=0.0000
Allele Frequency Aggregator African Sub 816 (CA)19C=0.479 del(AC)12=0.000, del(AC)11=0.000, del(AC)9=0.000, del(AC)8=0.000, del(AC)7=0.012, del(AC)6=0.121, del(AC)5=0.070, del(AC)4=0.054, del(AC)3=0.222, delACAC=0.000, delAC=0.042, dupAC=0.000, dupACAC=0.000, dup(AC)3=0.000, dup(AC)4=0.000, dup(AC)5=0.000, dup(AC)6=0.000, dup(AC)8=0.000
Allele Frequency Aggregator Asian Sub 56 (CA)19C=0.14 del(AC)12=0.00, del(AC)11=0.00, del(AC)9=0.00, del(AC)8=0.00, del(AC)7=0.02, del(AC)6=0.23, del(AC)5=0.11, del(AC)4=0.09, del(AC)3=0.41, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)3=0.00, dup(AC)4=0.00, dup(AC)5=0.00, dup(AC)6=0.00, dup(AC)8=0.00
Allele Frequency Aggregator Latin American 2 Sub 28 (CA)19C=1.00 del(AC)12=0.00, del(AC)11=0.00, del(AC)9=0.00, del(AC)8=0.00, del(AC)7=0.00, del(AC)6=0.00, del(AC)5=0.00, del(AC)4=0.00, del(AC)3=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)3=0.00, dup(AC)4=0.00, dup(AC)5=0.00, dup(AC)6=0.00, dup(AC)8=0.00
Allele Frequency Aggregator Latin American 1 Sub 8 (CA)19C=1.0 del(AC)12=0.0, del(AC)11=0.0, del(AC)9=0.0, del(AC)8=0.0, del(AC)7=0.0, del(AC)6=0.0, del(AC)5=0.0, del(AC)4=0.0, del(AC)3=0.0, delACAC=0.0, delAC=0.0, dupAC=0.0, dupACAC=0.0, dup(AC)3=0.0, dup(AC)4=0.0, dup(AC)5=0.0, dup(AC)6=0.0, dup(AC)8=0.0
Allele Frequency Aggregator South Asian Sub 2 (CA)19C=1.0 del(AC)12=0.0, del(AC)11=0.0, del(AC)9=0.0, del(AC)8=0.0, del(AC)7=0.0, del(AC)6=0.0, del(AC)5=0.0, del(AC)4=0.0, del(AC)3=0.0, delACAC=0.0, delAC=0.0, dupAC=0.0, dupACAC=0.0, dup(AC)3=0.0, dup(AC)4=0.0, dup(AC)5=0.0, dup(AC)6=0.0, dup(AC)8=0.0
GO Exome Sequencing Project Global Study-wide 12520 -

No frequency provided

dupAC=0.09321
GO Exome Sequencing Project European American Sub 8254 -

No frequency provided

dupAC=0.0964
GO Exome Sequencing Project African American Sub 4266 -

No frequency provided

dupAC=0.0870
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (CA)19C=0.7797 del(AC)6=0.2203
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 1 NC_000001.11:g.161223057AC[7]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[8]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[10]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[11]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[12]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[13]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[14]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[15]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[16]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[17]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[18]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[20]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[21]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[22]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[23]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[24]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[25]
GRCh38.p14 chr 1 NC_000001.11:g.161223057AC[27]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[7]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[8]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[10]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[11]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[12]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[13]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[14]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[15]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[16]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[17]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[18]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[20]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[21]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[22]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[23]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[24]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[25]
GRCh37.p13 chr 1 NC_000001.10:g.161192847AC[27]
APOA2 RefSeqGene NG_012043.1:g.5536TG[7]
APOA2 RefSeqGene NG_012043.1:g.5536TG[8]
APOA2 RefSeqGene NG_012043.1:g.5536TG[10]
APOA2 RefSeqGene NG_012043.1:g.5536TG[11]
APOA2 RefSeqGene NG_012043.1:g.5536TG[12]
APOA2 RefSeqGene NG_012043.1:g.5536TG[13]
APOA2 RefSeqGene NG_012043.1:g.5536TG[14]
APOA2 RefSeqGene NG_012043.1:g.5536TG[15]
APOA2 RefSeqGene NG_012043.1:g.5536TG[16]
APOA2 RefSeqGene NG_012043.1:g.5536TG[17]
APOA2 RefSeqGene NG_012043.1:g.5536TG[18]
APOA2 RefSeqGene NG_012043.1:g.5536TG[20]
APOA2 RefSeqGene NG_012043.1:g.5536TG[21]
APOA2 RefSeqGene NG_012043.1:g.5536TG[22]
APOA2 RefSeqGene NG_012043.1:g.5536TG[23]
APOA2 RefSeqGene NG_012043.1:g.5536TG[24]
APOA2 RefSeqGene NG_012043.1:g.5536TG[25]
APOA2 RefSeqGene NG_012043.1:g.5536TG[27]
Gene: APOA2, apolipoprotein A2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
APOA2 transcript NM_001643.2:c.53-43TG[7] 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: del(AC)6 (allele ID: 917395 )
ClinVar Accession Disease Names Clinical Significance
RCV001192860.1 not specified Benign
Allele: del(AC)5 (allele ID: 917394 )
ClinVar Accession Disease Names Clinical Significance
RCV001194247.2 not specified Benign
RCV001726447.1 not provided Likely-Benign
Allele: del(AC)4 (allele ID: 917393 )
ClinVar Accession Disease Names Clinical Significance
RCV001192998.1 not specified Benign
Allele: del(AC)3 (allele ID: 278001 )
ClinVar Accession Disease Names Clinical Significance
RCV000394607.3 Apolipoprotein A-II deficiency Uncertain-Significance
RCV001194249.1 not specified Benign
Allele: delACAC (allele ID: 277190 )
ClinVar Accession Disease Names Clinical Significance
RCV000350917.4 Apolipoprotein A-II deficiency Uncertain-Significance
RCV000951051.5 not provided Likely-Benign
RCV001192862.4 not specified Benign
Allele: delAC (allele ID: 921500 )
ClinVar Accession Disease Names Clinical Significance
RCV001201318.1 not specified Benign
Allele: dupAC (allele ID: 777046 )
ClinVar Accession Disease Names Clinical Significance
RCV000954218.7 not provided Benign
RCV001192861.2 not specified Benign
Allele: dupACAC (allele ID: 277193 )
ClinVar Accession Disease Names Clinical Significance
RCV000288838.4 Apolipoprotein A-II deficiency Uncertain-Significance
RCV000954071.6 not provided Benign
RCV001820847.3 not specified Likely-Benign
Allele: dup(AC)3 (allele ID: 1328971 )
ClinVar Accession Disease Names Clinical Significance
RCV001822560.3 not specified 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 (CA)19C= del(AC)12 del(AC)11 del(AC)9 del(AC)8 del(AC)7 del(AC)6 del(AC)5 del(AC)4 del(AC)3 delACAC delAC dupAC dupACAC dup(AC)3 dup(AC)4 dup(AC)5 dup(AC)6 dup(AC)8
GRCh38.p14 chr 1 NC_000001.11:g.161223056_161223094= NC_000001.11:g.161223057AC[7] NC_000001.11:g.161223057AC[8] NC_000001.11:g.161223057AC[10] NC_000001.11:g.161223057AC[11] NC_000001.11:g.161223057AC[12] NC_000001.11:g.161223057AC[13] NC_000001.11:g.161223057AC[14] NC_000001.11:g.161223057AC[15] NC_000001.11:g.161223057AC[16] NC_000001.11:g.161223057AC[17] NC_000001.11:g.161223057AC[18] NC_000001.11:g.161223057AC[20] NC_000001.11:g.161223057AC[21] NC_000001.11:g.161223057AC[22] NC_000001.11:g.161223057AC[23] NC_000001.11:g.161223057AC[24] NC_000001.11:g.161223057AC[25] NC_000001.11:g.161223057AC[27]
GRCh37.p13 chr 1 NC_000001.10:g.161192846_161192884= NC_000001.10:g.161192847AC[7] NC_000001.10:g.161192847AC[8] NC_000001.10:g.161192847AC[10] NC_000001.10:g.161192847AC[11] NC_000001.10:g.161192847AC[12] NC_000001.10:g.161192847AC[13] NC_000001.10:g.161192847AC[14] NC_000001.10:g.161192847AC[15] NC_000001.10:g.161192847AC[16] NC_000001.10:g.161192847AC[17] NC_000001.10:g.161192847AC[18] NC_000001.10:g.161192847AC[20] NC_000001.10:g.161192847AC[21] NC_000001.10:g.161192847AC[22] NC_000001.10:g.161192847AC[23] NC_000001.10:g.161192847AC[24] NC_000001.10:g.161192847AC[25] NC_000001.10:g.161192847AC[27]
APOA2 RefSeqGene NG_012043.1:g.5535_5573= NG_012043.1:g.5536TG[7] NG_012043.1:g.5536TG[8] NG_012043.1:g.5536TG[10] NG_012043.1:g.5536TG[11] NG_012043.1:g.5536TG[12] NG_012043.1:g.5536TG[13] NG_012043.1:g.5536TG[14] NG_012043.1:g.5536TG[15] NG_012043.1:g.5536TG[16] NG_012043.1:g.5536TG[17] NG_012043.1:g.5536TG[18] NG_012043.1:g.5536TG[20] NG_012043.1:g.5536TG[21] NG_012043.1:g.5536TG[22] NG_012043.1:g.5536TG[23] NG_012043.1:g.5536TG[24] NG_012043.1:g.5536TG[25] NG_012043.1:g.5536TG[27]
APOA2 transcript NM_001643.1:c.53-6= NM_001643.1:c.53-43TG[7] NM_001643.1:c.53-43TG[8] NM_001643.1:c.53-43TG[10] NM_001643.1:c.53-43TG[11] NM_001643.1:c.53-43TG[12] NM_001643.1:c.53-43TG[13] NM_001643.1:c.53-43TG[14] NM_001643.1:c.53-43TG[15] NM_001643.1:c.53-43TG[16] NM_001643.1:c.53-43TG[17] NM_001643.1:c.53-43TG[18] NM_001643.1:c.53-43TG[20] NM_001643.1:c.53-43TG[21] NM_001643.1:c.53-43TG[22] NM_001643.1:c.53-43TG[23] NM_001643.1:c.53-43TG[24] NM_001643.1:c.53-43TG[25] NM_001643.1:c.53-43TG[27]
APOA2 transcript NM_001643.2:c.53-6= NM_001643.2:c.53-43TG[7] NM_001643.2:c.53-43TG[8] NM_001643.2:c.53-43TG[10] NM_001643.2:c.53-43TG[11] NM_001643.2:c.53-43TG[12] NM_001643.2:c.53-43TG[13] NM_001643.2:c.53-43TG[14] NM_001643.2:c.53-43TG[15] NM_001643.2:c.53-43TG[16] NM_001643.2:c.53-43TG[17] NM_001643.2:c.53-43TG[18] NM_001643.2:c.53-43TG[20] NM_001643.2:c.53-43TG[21] NM_001643.2:c.53-43TG[22] NM_001643.2:c.53-43TG[23] NM_001643.2:c.53-43TG[24] NM_001643.2:c.53-43TG[25] NM_001643.2:c.53-43TG[27]
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#.

111 SubSNP, 55 Frequency, 16 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82088851 Dec 15, 2007 (136)
2 HGSV ss82288257 Dec 15, 2007 (136)
3 HGSV ss82988396 Jan 10, 2018 (151)
4 HUMANGENOME_JCVI ss95244658 Feb 06, 2009 (138)
5 GMI ss288046437 May 04, 2012 (137)
6 1000GENOMES ss326091279 May 09, 2011 (135)
7 1000GENOMES ss326094393 May 09, 2011 (135)
8 1000GENOMES ss326124439 May 09, 2011 (134)
9 LUNTER ss550985677 Apr 25, 2013 (138)
10 LUNTER ss551004279 Apr 25, 2013 (138)
11 LUNTER ss552811216 Apr 25, 2013 (138)
12 DDI ss1536249884 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1701308302 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1701308379 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1709952745 Apr 01, 2015 (136)
16 EVA_UK10K_ALSPAC ss1709952750 Apr 01, 2015 (136)
17 EVA_EXAC ss1711642733 Apr 01, 2015 (144)
18 EVA_EXAC ss1711642734 Apr 01, 2015 (144)
19 EVA_EXAC ss1711642735 Apr 01, 2015 (144)
20 EVA_EXAC ss1711642736 Apr 01, 2015 (144)
21 EVA_EXAC ss1711642737 Apr 01, 2015 (144)
22 EVA_EXAC ss1711642738 Apr 01, 2015 (144)
23 TMC_SNPDB ss1997019560 Jul 19, 2016 (136)
24 TMC_SNPDB ss1997019562 Jul 19, 2016 (147)
25 TMC_SNPDB ss1997019564 Jul 19, 2016 (147)
26 CLINVAR ss2137078274 Dec 14, 2016 (149)
27 SWEGEN ss2987827808 Nov 08, 2017 (151)
28 MCHAISSO ss3063610982 Nov 08, 2017 (151)
29 MCHAISSO ss3064426982 Nov 08, 2017 (151)
30 MCHAISSO ss3064426983 Nov 08, 2017 (151)
31 MCHAISSO ss3065331093 Nov 08, 2017 (151)
32 MCHAISSO ss3065331094 Nov 08, 2017 (151)
33 URBANLAB ss3646801360 Oct 11, 2018 (152)
34 URBANLAB ss3646801361 Oct 11, 2018 (152)
35 EVA_DECODE ss3687874172 Jul 12, 2019 (153)
36 EVA_DECODE ss3687874173 Jul 12, 2019 (153)
37 EVA_DECODE ss3687874174 Jul 12, 2019 (153)
38 EVA_DECODE ss3687874175 Jul 12, 2019 (153)
39 EVA_DECODE ss3687874176 Jul 12, 2019 (153)
40 EVA_DECODE ss3687874177 Jul 12, 2019 (153)
41 PACBIO ss3783579422 Jul 12, 2019 (153)
42 PACBIO ss3789208658 Jul 12, 2019 (153)
43 PACBIO ss3794080687 Jul 12, 2019 (153)
44 KHV_HUMAN_GENOMES ss3799864438 Jul 12, 2019 (153)
45 KHV_HUMAN_GENOMES ss3799864439 Jul 12, 2019 (153)
46 EVA ss3826448207 Apr 25, 2020 (154)
47 EVA ss3842028595 Apr 25, 2020 (154)
48 KOGIC ss3945748267 Apr 25, 2020 (154)
49 KOGIC ss3945748268 Apr 25, 2020 (154)
50 KOGIC ss3945748269 Apr 25, 2020 (154)
51 KOGIC ss3945748270 Apr 25, 2020 (154)
52 KOGIC ss3945748271 Apr 25, 2020 (154)
53 KOGIC ss3945748272 Apr 25, 2020 (154)
54 FSA-LAB ss3983951347 Apr 25, 2021 (155)
55 GNOMAD ss4004548476 Apr 25, 2021 (155)
56 GNOMAD ss4004548477 Apr 25, 2021 (155)
57 GNOMAD ss4004548478 Apr 25, 2021 (155)
58 GNOMAD ss4004548479 Apr 25, 2021 (155)
59 GNOMAD ss4004548480 Apr 25, 2021 (155)
60 GNOMAD ss4004548481 Apr 25, 2021 (155)
61 GNOMAD ss4004548482 Apr 25, 2021 (155)
62 GNOMAD ss4004548483 Apr 25, 2021 (155)
63 GNOMAD ss4004548484 Apr 25, 2021 (155)
64 GNOMAD ss4004548485 Apr 25, 2021 (155)
65 GNOMAD ss4004548486 Apr 25, 2021 (155)
66 GNOMAD ss4004548487 Apr 25, 2021 (155)
67 GNOMAD ss4004548488 Apr 25, 2021 (155)
68 GNOMAD ss4004548489 Apr 25, 2021 (155)
69 GNOMAD ss4004548490 Apr 25, 2021 (155)
70 GNOMAD ss4004548491 Apr 25, 2021 (155)
71 GNOMAD ss4004548492 Apr 25, 2021 (155)
72 GNOMAD ss4004548493 Apr 25, 2021 (155)
73 TOPMED ss4469955913 Apr 25, 2021 (155)
74 TOPMED ss4469955914 Apr 25, 2021 (155)
75 TOMMO_GENOMICS ss5146697342 Apr 25, 2021 (155)
76 TOMMO_GENOMICS ss5146697343 Apr 25, 2021 (155)
77 TOMMO_GENOMICS ss5146697344 Apr 25, 2021 (155)
78 TOMMO_GENOMICS ss5146697345 Apr 25, 2021 (155)
79 TOMMO_GENOMICS ss5146697346 Apr 25, 2021 (155)
80 TOMMO_GENOMICS ss5146697347 Apr 25, 2021 (155)
81 EVA ss5237164687 Apr 25, 2021 (155)
82 EVA ss5237164688 Apr 25, 2021 (155)
83 GENOMICARE ss5240821519 Oct 12, 2022 (156)
84 1000G_HIGH_COVERAGE ss5244453355 Oct 12, 2022 (156)
85 TRAN_CS_UWATERLOO ss5314397800 Oct 12, 2022 (156)
86 TRAN_CS_UWATERLOO ss5314397801 Oct 12, 2022 (156)
87 TRAN_CS_UWATERLOO ss5314397802 Oct 12, 2022 (156)
88 TRAN_CS_UWATERLOO ss5314397803 Oct 12, 2022 (156)
89 TRAN_CS_UWATERLOO ss5314397804 Oct 12, 2022 (156)
90 TRAN_CS_UWATERLOO ss5314397805 Oct 12, 2022 (156)
91 TRAN_CS_UWATERLOO ss5314397806 Oct 12, 2022 (156)
92 TRAN_CS_UWATERLOO ss5314397807 Oct 12, 2022 (156)
93 HUGCELL_USP ss5445026048 Oct 12, 2022 (156)
94 HUGCELL_USP ss5445026049 Oct 12, 2022 (156)
95 HUGCELL_USP ss5445026050 Oct 12, 2022 (156)
96 HUGCELL_USP ss5445026051 Oct 12, 2022 (156)
97 HUGCELL_USP ss5445026052 Oct 12, 2022 (156)
98 HUGCELL_USP ss5445026053 Oct 12, 2022 (156)
99 EVA ss5623917054 Oct 12, 2022 (156)
100 EVA ss5623999112 Oct 12, 2022 (156)
101 EVA ss5623999113 Oct 12, 2022 (156)
102 EVA ss5623999114 Oct 12, 2022 (156)
103 TOMMO_GENOMICS ss5673959532 Oct 12, 2022 (156)
104 TOMMO_GENOMICS ss5673959533 Oct 12, 2022 (156)
105 TOMMO_GENOMICS ss5673959534 Oct 12, 2022 (156)
106 TOMMO_GENOMICS ss5673959535 Oct 12, 2022 (156)
107 TOMMO_GENOMICS ss5673959536 Oct 12, 2022 (156)
108 TOMMO_GENOMICS ss5673959537 Oct 12, 2022 (156)
109 EVA ss5832728764 Oct 12, 2022 (156)
110 EVA ss5832728765 Oct 12, 2022 (156)
111 EVA ss5848276177 Oct 12, 2022 (156)
112 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 161192846 Oct 11, 2018 (152)
113 ExAC

Submission ignored due to conflicting rows:
Row 5103557 (NC_000001.10:161192845:CA: 7416/104902)
Row 5103558 (NC_000001.10:161192845:CACACA: 28069/104902)
Row 5103559 (NC_000001.10:161192845:CACACACA: 7040/104902)
Row 5103560 (NC_000001.10:161192845:CACACACACA: 13768/104902)
Row 5103561 (NC_000001.10:161192845:CACACACACACA: 18115/104902)
Row 5103562 (NC_000001.10:161192845:CACACACACACACA: 1905/104902)

- Oct 11, 2018 (152)
114 ExAC

Submission ignored due to conflicting rows:
Row 5103557 (NC_000001.10:161192845:CA: 7416/104902)
Row 5103558 (NC_000001.10:161192845:CACACA: 28069/104902)
Row 5103559 (NC_000001.10:161192845:CACACACA: 7040/104902)
Row 5103560 (NC_000001.10:161192845:CACACACACA: 13768/104902)
Row 5103561 (NC_000001.10:161192845:CACACACACACA: 18115/104902)
Row 5103562 (NC_000001.10:161192845:CACACACACACACA: 1905/104902)

- Oct 11, 2018 (152)
115 ExAC

Submission ignored due to conflicting rows:
Row 5103557 (NC_000001.10:161192845:CA: 7416/104902)
Row 5103558 (NC_000001.10:161192845:CACACA: 28069/104902)
Row 5103559 (NC_000001.10:161192845:CACACACA: 7040/104902)
Row 5103560 (NC_000001.10:161192845:CACACACACA: 13768/104902)
Row 5103561 (NC_000001.10:161192845:CACACACACACA: 18115/104902)
Row 5103562 (NC_000001.10:161192845:CACACACACACACA: 1905/104902)

- Oct 11, 2018 (152)
116 ExAC

Submission ignored due to conflicting rows:
Row 5103557 (NC_000001.10:161192845:CA: 7416/104902)
Row 5103558 (NC_000001.10:161192845:CACACA: 28069/104902)
Row 5103559 (NC_000001.10:161192845:CACACACA: 7040/104902)
Row 5103560 (NC_000001.10:161192845:CACACACACA: 13768/104902)
Row 5103561 (NC_000001.10:161192845:CACACACACACA: 18115/104902)
Row 5103562 (NC_000001.10:161192845:CACACACACACACA: 1905/104902)

- Oct 11, 2018 (152)
117 ExAC

Submission ignored due to conflicting rows:
Row 5103557 (NC_000001.10:161192845:CA: 7416/104902)
Row 5103558 (NC_000001.10:161192845:CACACA: 28069/104902)
Row 5103559 (NC_000001.10:161192845:CACACACA: 7040/104902)
Row 5103560 (NC_000001.10:161192845:CACACACACA: 13768/104902)
Row 5103561 (NC_000001.10:161192845:CACACACACACA: 18115/104902)
Row 5103562 (NC_000001.10:161192845:CACACACACACACA: 1905/104902)

- Oct 11, 2018 (152)
118 ExAC

Submission ignored due to conflicting rows:
Row 5103557 (NC_000001.10:161192845:CA: 7416/104902)
Row 5103558 (NC_000001.10:161192845:CACACA: 28069/104902)
Row 5103559 (NC_000001.10:161192845:CACACACA: 7040/104902)
Row 5103560 (NC_000001.10:161192845:CACACACACA: 13768/104902)
Row 5103561 (NC_000001.10:161192845:CACACACACACA: 18115/104902)
Row 5103562 (NC_000001.10:161192845:CACACACACACACA: 1905/104902)

- Oct 11, 2018 (152)
119 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
124 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
125 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
126 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
127 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
128 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
129 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
130 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
131 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
132 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
133 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
134 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
135 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
136 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 28410195 (NC_000001.11:161223055::CA 4431/135940)
Row 28410196 (NC_000001.11:161223055::CACA 1177/135980)
Row 28410197 (NC_000001.11:161223055::CACACA 431/135984)...

- Apr 25, 2021 (155)
137 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1033414 (NC_000001.10:161192845:CA: 11738/195520)
Row 1033415 (NC_000001.10:161192845:CACACA: 55088/195520)
Row 1033416 (NC_000001.10:161192845:CACACACA: 10309/195520)...

- Jul 12, 2019 (153)
138 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1033414 (NC_000001.10:161192845:CA: 11738/195520)
Row 1033415 (NC_000001.10:161192845:CACACA: 55088/195520)
Row 1033416 (NC_000001.10:161192845:CACACACA: 10309/195520)...

- Jul 12, 2019 (153)
139 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1033414 (NC_000001.10:161192845:CA: 11738/195520)
Row 1033415 (NC_000001.10:161192845:CACACA: 55088/195520)
Row 1033416 (NC_000001.10:161192845:CACACACA: 10309/195520)...

- Jul 12, 2019 (153)
140 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1033414 (NC_000001.10:161192845:CA: 11738/195520)
Row 1033415 (NC_000001.10:161192845:CACACA: 55088/195520)
Row 1033416 (NC_000001.10:161192845:CACACACA: 10309/195520)...

- Jul 12, 2019 (153)
141 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1033414 (NC_000001.10:161192845:CA: 11738/195520)
Row 1033415 (NC_000001.10:161192845:CACACA: 55088/195520)
Row 1033416 (NC_000001.10:161192845:CACACACA: 10309/195520)...

- Jul 12, 2019 (153)
142 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1033414 (NC_000001.10:161192845:CA: 11738/195520)
Row 1033415 (NC_000001.10:161192845:CACACA: 55088/195520)
Row 1033416 (NC_000001.10:161192845:CACACACA: 10309/195520)...

- Jul 12, 2019 (153)
143 GO Exome Sequencing Project NC_000001.10 - 161192859 Oct 11, 2018 (152)
144 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2126268 (NC_000001.11:161223057:CACACACACA: 365/1832)
Row 2126269 (NC_000001.11:161223061:CACACA: 666/1832)
Row 2126270 (NC_000001.11:161223055:CACACACACACA: 485/1832)...

- Apr 25, 2020 (154)
145 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2126268 (NC_000001.11:161223057:CACACACACA: 365/1832)
Row 2126269 (NC_000001.11:161223061:CACACA: 666/1832)
Row 2126270 (NC_000001.11:161223055:CACACACACACA: 485/1832)...

- Apr 25, 2020 (154)
146 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2126268 (NC_000001.11:161223057:CACACACACA: 365/1832)
Row 2126269 (NC_000001.11:161223061:CACACA: 666/1832)
Row 2126270 (NC_000001.11:161223055:CACACACACACA: 485/1832)...

- Apr 25, 2020 (154)
147 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2126268 (NC_000001.11:161223057:CACACACACA: 365/1832)
Row 2126269 (NC_000001.11:161223061:CACACA: 666/1832)
Row 2126270 (NC_000001.11:161223055:CACACACACACA: 485/1832)...

- Apr 25, 2020 (154)
148 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2126268 (NC_000001.11:161223057:CACACACACA: 365/1832)
Row 2126269 (NC_000001.11:161223061:CACACA: 666/1832)
Row 2126270 (NC_000001.11:161223055:CACACACACACA: 485/1832)...

- Apr 25, 2020 (154)
149 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2126268 (NC_000001.11:161223057:CACACACACA: 365/1832)
Row 2126269 (NC_000001.11:161223061:CACACA: 666/1832)
Row 2126270 (NC_000001.11:161223055:CACACACACACA: 485/1832)...

- Apr 25, 2020 (154)
150 8.3KJPN

Submission ignored due to conflicting rows:
Row 4666649 (NC_000001.10:161192845:CACACACACACA: 4141/16666)
Row 4666650 (NC_000001.10:161192845:CACACACACA: 4053/16666)
Row 4666651 (NC_000001.10:161192845:CACACA: 6405/16666)...

- Apr 25, 2021 (155)
151 8.3KJPN

Submission ignored due to conflicting rows:
Row 4666649 (NC_000001.10:161192845:CACACACACACA: 4141/16666)
Row 4666650 (NC_000001.10:161192845:CACACACACA: 4053/16666)
Row 4666651 (NC_000001.10:161192845:CACACA: 6405/16666)...

- Apr 25, 2021 (155)
152 8.3KJPN

Submission ignored due to conflicting rows:
Row 4666649 (NC_000001.10:161192845:CACACACACACA: 4141/16666)
Row 4666650 (NC_000001.10:161192845:CACACACACA: 4053/16666)
Row 4666651 (NC_000001.10:161192845:CACACA: 6405/16666)...

- Apr 25, 2021 (155)
153 8.3KJPN

Submission ignored due to conflicting rows:
Row 4666649 (NC_000001.10:161192845:CACACACACACA: 4141/16666)
Row 4666650 (NC_000001.10:161192845:CACACACACA: 4053/16666)
Row 4666651 (NC_000001.10:161192845:CACACA: 6405/16666)...

- Apr 25, 2021 (155)
154 8.3KJPN

Submission ignored due to conflicting rows:
Row 4666649 (NC_000001.10:161192845:CACACACACACA: 4141/16666)
Row 4666650 (NC_000001.10:161192845:CACACACACA: 4053/16666)
Row 4666651 (NC_000001.10:161192845:CACACA: 6405/16666)...

- Apr 25, 2021 (155)
155 8.3KJPN

Submission ignored due to conflicting rows:
Row 4666649 (NC_000001.10:161192845:CACACACACACA: 4141/16666)
Row 4666650 (NC_000001.10:161192845:CACACACACA: 4053/16666)
Row 4666651 (NC_000001.10:161192845:CACACA: 6405/16666)...

- Apr 25, 2021 (155)
156 14KJPN

Submission ignored due to conflicting rows:
Row 7796636 (NC_000001.11:161223055:CACACACACACA: 7194/28094)
Row 7796637 (NC_000001.11:161223055:CACACACACA: 6754/28094)
Row 7796638 (NC_000001.11:161223055:CACACA: 10490/28094)...

- Oct 12, 2022 (156)
157 14KJPN

Submission ignored due to conflicting rows:
Row 7796636 (NC_000001.11:161223055:CACACACACACA: 7194/28094)
Row 7796637 (NC_000001.11:161223055:CACACACACA: 6754/28094)
Row 7796638 (NC_000001.11:161223055:CACACA: 10490/28094)...

- Oct 12, 2022 (156)
158 14KJPN

Submission ignored due to conflicting rows:
Row 7796636 (NC_000001.11:161223055:CACACACACACA: 7194/28094)
Row 7796637 (NC_000001.11:161223055:CACACACACA: 6754/28094)
Row 7796638 (NC_000001.11:161223055:CACACA: 10490/28094)...

- Oct 12, 2022 (156)
159 14KJPN

Submission ignored due to conflicting rows:
Row 7796636 (NC_000001.11:161223055:CACACACACACA: 7194/28094)
Row 7796637 (NC_000001.11:161223055:CACACACACA: 6754/28094)
Row 7796638 (NC_000001.11:161223055:CACACA: 10490/28094)...

- Oct 12, 2022 (156)
160 14KJPN

Submission ignored due to conflicting rows:
Row 7796636 (NC_000001.11:161223055:CACACACACACA: 7194/28094)
Row 7796637 (NC_000001.11:161223055:CACACACACA: 6754/28094)
Row 7796638 (NC_000001.11:161223055:CACACA: 10490/28094)...

- Oct 12, 2022 (156)
161 14KJPN

Submission ignored due to conflicting rows:
Row 7796636 (NC_000001.11:161223055:CACACACACACA: 7194/28094)
Row 7796637 (NC_000001.11:161223055:CACACACACA: 6754/28094)
Row 7796638 (NC_000001.11:161223055:CACACA: 10490/28094)...

- Oct 12, 2022 (156)
162 TopMed

Submission ignored due to conflicting rows:
Row 33562248 (NC_000001.11:161223055::CACACACA 236/264690)
Row 33562249 (NC_000001.11:161223055::CACACACACACA 18/264690)

- Apr 25, 2021 (155)
163 TopMed

Submission ignored due to conflicting rows:
Row 33562248 (NC_000001.11:161223055::CACACACA 236/264690)
Row 33562249 (NC_000001.11:161223055::CACACACACACA 18/264690)

- Apr 25, 2021 (155)
164 UK 10K study - Twins - Oct 11, 2018 (152)
165 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2129401 (NC_000001.10:161192845:CACACACACACA: 802/3708)
Row 2129402 (NC_000001.10:161192851:CACACA: 1320/3708)

- Apr 25, 2020 (154)
166 ALFA NC_000001.11 - 161223056 Apr 25, 2021 (155)
167 ClinVar RCV000288838.4 Oct 12, 2022 (156)
168 ClinVar RCV000350917.4 Oct 12, 2022 (156)
169 ClinVar RCV000394607.3 Oct 12, 2022 (156)
170 ClinVar RCV000951051.5 Oct 12, 2022 (156)
171 ClinVar RCV000954071.6 Oct 12, 2022 (156)
172 ClinVar RCV000954218.7 Oct 12, 2022 (156)
173 ClinVar RCV001192860.1 Apr 25, 2021 (155)
174 ClinVar RCV001192861.2 Oct 12, 2022 (156)
175 ClinVar RCV001192862.4 Oct 12, 2022 (156)
176 ClinVar RCV001192998.1 Apr 25, 2021 (155)
177 ClinVar RCV001194247.2 Oct 12, 2022 (156)
178 ClinVar RCV001194249.1 Apr 25, 2021 (155)
179 ClinVar RCV001201318.1 Apr 25, 2021 (155)
180 ClinVar RCV001726447.1 Oct 12, 2022 (156)
181 ClinVar RCV001820847.3 Oct 12, 2022 (156)
182 ClinVar RCV001822560.3 Oct 12, 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)
rs147869148 Sep 17, 2011 (135)
rs60433002 Feb 27, 2017 (136)
rs755758186 Feb 27, 2017 (136)
rs879069471 Feb 27, 2017 (136)
rs995158967 Apr 28, 2017 (136)
rs68187460 Apr 25, 2013 (138)
rs68187461 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4004548493 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC

(self)
ss4004548492 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC

(self)
ss4004548491 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC

(self)
ss4004548490, ss5314397807 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC

(self)
ss1711642738 NC_000001.10:161192845:CACACACACAC…

NC_000001.10:161192845:CACACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC

(self)
ss4004548489, ss5314397805 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC

(self)
ss288046437, ss326091279, ss326094393, ss552811216 NC_000001.9:159459469:CACACACACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

(self)
2129401, ss1536249884, ss1701308302, ss1701308379, ss1711642737, ss2987827808, ss5146697342, ss5623917054, ss5623999113, ss5832728765 NC_000001.10:161192845:CACACACACAC…

NC_000001.10:161192845:CACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

(self)
ss5848276177 NC_000001.10:161192872:ACACACACACA…

NC_000001.10:161192872:ACACACACACAC:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

ss3064426983, ss3687874177, ss3799864439, ss3842028595, ss3945748269, ss4004548488, ss5314397801, ss5445026050, ss5673959532 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

(self)
RCV001192860.1, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

(self)
ss3646801361 NC_000001.11:161223075:CACACACACAC…

NC_000001.11:161223075:CACACACACACA:

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

(self)
ss95244658 NT_004487.19:12681514:ACACACACACAC: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC

(self)
ss1711642733, ss1997019562, ss3826448207, ss5146697343, ss5240821519 NC_000001.10:161192845:CACACACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC

(self)
ss3063610982, ss3064426982, ss3065331093, ss4004548487, ss5314397802, ss5445026051, ss5673959533 NC_000001.11:161223055:CACACACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC

(self)
RCV001194247.2, RCV001726447.1, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC

(self)
ss3687874176, ss3945748267 NC_000001.11:161223057:CACACACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC

(self)
ss1711642734, ss5146697346 NC_000001.10:161192845:CACACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC

(self)
ss4004548486, ss5314397803, ss5445026048, ss5673959535 NC_000001.11:161223055:CACACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC

(self)
RCV001192998.1, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC

(self)
ss3687874175, ss3945748270 NC_000001.11:161223059:CACACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC

(self)
ss82088851, ss82288257 NC_000001.8:158005951:ACACAC: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
ss326124439, ss550985677, ss551004279 NC_000001.9:159459469:CACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
ss1711642735, ss3783579422, ss3789208658, ss3794080687, ss5146697344, ss5623999112, ss5832728764 NC_000001.10:161192845:CACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
ss1997019560 NC_000001.10:161192849:CACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
ss1709952745, ss1709952750 NC_000001.10:161192851:CACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
ss4004548485, ss5237164687, ss5244453355, ss5314397800, ss5445026049, ss5673959534 NC_000001.11:161223055:CACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
RCV000394607.3, RCV001194249.1, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
ss3687874174, ss3799864438, ss3945748268 NC_000001.11:161223061:CACACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC

(self)
ss1997019564, ss5146697345 NC_000001.10:161192845:CACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC

(self)
ss3065331094, ss4004548484, ss5314397804, ss5445026053, ss5673959536 NC_000001.11:161223055:CACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC

(self)
RCV000350917.4, RCV000951051.5, RCV001192862.4, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC

(self)
ss3687874173, ss3945748271 NC_000001.11:161223063:CACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC

(self)
ss3646801360 NC_000001.11:161223069:CACA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC

(self)
ss82988396 NC_000001.8:158005955:AC: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC

(self)
ss1711642736, ss5623999114 NC_000001.10:161192845:CA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC

(self)
ss4004548483, ss5314397806, ss5445026052 NC_000001.11:161223055:CA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC

(self)
RCV001201318.1, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC

(self)
ss5237164688 NC_000001.11:161223059:CA: NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC

(self)
ss3983951347, ss5146697347 NC_000001.10:161192845::CA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC

(self)
137273 NC_000001.10:161192858::AC NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC

(self)
ss4004548476, ss5673959537 NC_000001.11:161223055::CA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC

(self)
RCV000954218.7, RCV001192861.2, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC

(self)
ss3687874172, ss3945748272 NC_000001.11:161223067::CA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC

(self)
ss2137078274, ss4004548477 NC_000001.11:161223055::CACA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC

(self)
RCV000288838.4, RCV000954071.6, RCV001820847.3, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC

(self)
ss4004548478 NC_000001.11:161223055::CACACA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC

(self)
RCV001822560.3, 12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC

(self)
ss4004548479, ss4469955913 NC_000001.11:161223055::CACACACA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC

(self)
ss4004548480 NC_000001.11:161223055::CACACACACA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC

(self)
ss4004548481, ss4469955914 NC_000001.11:161223055::CACACACACA…

NC_000001.11:161223055::CACACACACACA

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC

(self)
ss4004548482 NC_000001.11:161223055::CACACACACA…

NC_000001.11:161223055::CACACACACACACACA

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC

(self)
12822645526 NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC

NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2329440382 NC_000001.10:161192845::CACACACA NC_000001.11:161223055:CACACACACAC…

NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC

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 rs17244502

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