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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs765152239

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:99984275 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000030 (8/264690, TOPMED)
A=0.000036 (5/140132, GnomAD)
A=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANKS1B : 5 Prime UTR 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 C=0.99993 A=0.00007, T=0.00000
European Sub 9690 C=0.9999 A=0.0001, T=0.0000
African Sub 2898 C=1.0000 A=0.0000, T=0.0000
African Others Sub 114 C=1.000 A=0.000, T=0.000
African American Sub 2784 C=1.0000 A=0.0000, T=0.0000
Asian Sub 112 C=1.000 A=0.000, T=0.000
East Asian Sub 86 C=1.00 A=0.00, T=0.00
Other Asian Sub 26 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 496 C=1.000 A=0.000, T=0.000


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
TopMed Global Study-wide 264690 C=0.999970 A=0.000030
gnomAD - Genomes Global Study-wide 140132 C=0.999964 A=0.000036
gnomAD - Genomes European Sub 75904 C=0.99993 A=0.00007
gnomAD - Genomes African Sub 41976 C=1.00000 A=0.00000
gnomAD - Genomes American Sub 13650 C=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2144 C=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 C=0.99993 A=0.00007, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=0.9999 A=0.0001, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
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 12 NC_000012.12:g.99984275C>A
GRCh38.p14 chr 12 NC_000012.12:g.99984275C>G
GRCh38.p14 chr 12 NC_000012.12:g.99984275C>T
GRCh37.p13 chr 12 NC_000012.11:g.100378053C>A
GRCh37.p13 chr 12 NC_000012.11:g.100378053C>G
GRCh37.p13 chr 12 NC_000012.11:g.100378053C>T
ANKS1B RefSeqGene NG_029860.2:g.5380G>T
ANKS1B RefSeqGene NG_029860.2:g.5380G>C
ANKS1B RefSeqGene NG_029860.2:g.5380G>A
Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANKS1B transcript variant 1 NM_152788.4:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant 15 NM_001352187.1:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant 14 NM_001352188.1:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant 16 NM_001352185.1:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant 13 NM_001352186.2:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant 4 NM_001204065.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 5 NM_001204066.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 6 NM_001204067.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 7 NM_001204068.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 8 NM_001204069.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 9 NM_001204070.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 10 NM_001204079.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 11 NM_001204080.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 12 NM_001204081.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 24 NM_001352189.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 25 NM_001352190.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 34 NM_001352191.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 29 NM_001352192.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 28 NM_001352193.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 32 NM_001352194.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 19 NM_001352195.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 20 NM_001352196.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 26 NM_001352197.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 17 NM_001352198.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 30 NM_001352199.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 22 NM_001352200.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 33 NM_001352201.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 23 NM_001352202.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 31 NM_001352203.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 21 NM_001352204.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 18 NM_001352205.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 27 NM_001352206.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 39 NM_001352207.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 36 NM_001352208.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 40 NM_001352209.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 43 NM_001352210.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 44 NM_001352211.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 45 NM_001352212.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 50 NM_001352213.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 51 NM_001352214.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 52 NM_001352216.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 49 NM_001352217.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 46 NM_001352218.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 35 NM_001352219.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 47 NM_001352220.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 41 NM_001352221.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 37 NM_001352222.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 38 NM_001352223.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 48 NM_001352224.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 42 NM_001352225.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 3 NM_020140.4:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant 2 NM_181670.4:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X1 XM_006719504.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X2 XM_006719505.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X3 XM_017019652.3:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X4 XM_006719507.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X5 XM_006719508.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X6 XM_005269029.6:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X7 XM_011538571.4:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X8 XM_006719510.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X9 XM_006719512.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X10 XM_006719513.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X11 XM_006719514.5:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X12 XM_047429164.1:c.-38= N/A 5 Prime UTR Variant
ANKS1B transcript variant X13 XM_024449060.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X14 XM_024449061.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X18 XM_024449065.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X20 XM_024449069.2:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X15 XM_047429165.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X16 XM_047429166.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X17 XM_047429167.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X19 XM_047429168.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X21 XM_047429169.1:c. N/A Genic Upstream Transcript Variant
ANKS1B transcript variant X22 XM_047429170.1:c. N/A Genic Upstream Transcript Variant
Help

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

Not Reported in ClinVar
Help

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

Placement C= A G T
GRCh38.p14 chr 12 NC_000012.12:g.99984275= NC_000012.12:g.99984275C>A NC_000012.12:g.99984275C>G NC_000012.12:g.99984275C>T
GRCh37.p13 chr 12 NC_000012.11:g.100378053= NC_000012.11:g.100378053C>A NC_000012.11:g.100378053C>G NC_000012.11:g.100378053C>T
ANKS1B RefSeqGene NG_029860.2:g.5380= NG_029860.2:g.5380G>T NG_029860.2:g.5380G>C NG_029860.2:g.5380G>A
ANKS1B transcript variant 1 NM_152788.4:c.-38= NM_152788.4:c.-38G>T NM_152788.4:c.-38G>C NM_152788.4:c.-38G>A
ANKS1B transcript variant 13 NM_001352186.2:c.-38= NM_001352186.2:c.-38G>T NM_001352186.2:c.-38G>C NM_001352186.2:c.-38G>A
ANKS1B transcript variant 13 NM_001352186.1:c.-38= NM_001352186.1:c.-38G>T NM_001352186.1:c.-38G>C NM_001352186.1:c.-38G>A
ANKS1B transcript variant 14 NM_001352188.1:c.-38= NM_001352188.1:c.-38G>T NM_001352188.1:c.-38G>C NM_001352188.1:c.-38G>A
ANKS1B transcript variant 15 NM_001352187.1:c.-38= NM_001352187.1:c.-38G>T NM_001352187.1:c.-38G>C NM_001352187.1:c.-38G>A
ANKS1B transcript variant 16 NM_001352185.1:c.-38= NM_001352185.1:c.-38G>T NM_001352185.1:c.-38G>C NM_001352185.1:c.-38G>A
ANKS1B transcript variant X6 XM_005269029.6:c.-38= XM_005269029.6:c.-38G>T XM_005269029.6:c.-38G>C XM_005269029.6:c.-38G>A
ANKS1B transcript variant X9 XM_005269029.5:c.-38= XM_005269029.5:c.-38G>T XM_005269029.5:c.-38G>C XM_005269029.5:c.-38G>A
ANKS1B transcript variant X11 XM_005269029.3:c.-38= XM_005269029.3:c.-38G>T XM_005269029.3:c.-38G>C XM_005269029.3:c.-38G>A
ANKS1B transcript variant X2 XM_005269029.2:c.-38= XM_005269029.2:c.-38G>T XM_005269029.2:c.-38G>C XM_005269029.2:c.-38G>A
ANKS1B transcript variant X2 XM_005269029.1:c.-38= XM_005269029.1:c.-38G>T XM_005269029.1:c.-38G>C XM_005269029.1:c.-38G>A
ANKS1B transcript variant X5 XM_006719508.5:c.-38= XM_006719508.5:c.-38G>T XM_006719508.5:c.-38G>C XM_006719508.5:c.-38G>A
ANKS1B transcript variant X7 XM_006719508.4:c.-38= XM_006719508.4:c.-38G>T XM_006719508.4:c.-38G>C XM_006719508.4:c.-38G>A
ANKS1B transcript variant X10 XM_006719508.3:c.-38= XM_006719508.3:c.-38G>T XM_006719508.3:c.-38G>C XM_006719508.3:c.-38G>A
ANKS1B transcript variant X9 XM_006719508.2:c.-38= XM_006719508.2:c.-38G>T XM_006719508.2:c.-38G>C XM_006719508.2:c.-38G>A
ANKS1B transcript variant X10 XM_006719508.1:c.-38= XM_006719508.1:c.-38G>T XM_006719508.1:c.-38G>C XM_006719508.1:c.-38G>A
ANKS1B transcript variant X8 XM_006719510.5:c.-38= XM_006719510.5:c.-38G>T XM_006719510.5:c.-38G>C XM_006719510.5:c.-38G>A
ANKS1B transcript variant X12 XM_006719510.4:c.-38= XM_006719510.4:c.-38G>T XM_006719510.4:c.-38G>C XM_006719510.4:c.-38G>A
ANKS1B transcript variant X16 XM_006719510.3:c.-38= XM_006719510.3:c.-38G>T XM_006719510.3:c.-38G>C XM_006719510.3:c.-38G>A
ANKS1B transcript variant X14 XM_006719510.2:c.-38= XM_006719510.2:c.-38G>T XM_006719510.2:c.-38G>C XM_006719510.2:c.-38G>A
ANKS1B transcript variant X12 XM_006719510.1:c.-38= XM_006719510.1:c.-38G>T XM_006719510.1:c.-38G>C XM_006719510.1:c.-38G>A
ANKS1B transcript variant X2 XM_006719505.5:c.-38= XM_006719505.5:c.-38G>T XM_006719505.5:c.-38G>C XM_006719505.5:c.-38G>A
ANKS1B transcript variant X2 XM_006719505.4:c.-38= XM_006719505.4:c.-38G>T XM_006719505.4:c.-38G>C XM_006719505.4:c.-38G>A
ANKS1B transcript variant X3 XM_006719505.3:c.-38= XM_006719505.3:c.-38G>T XM_006719505.3:c.-38G>C XM_006719505.3:c.-38G>A
ANKS1B transcript variant X5 XM_006719505.2:c.-38= XM_006719505.2:c.-38G>T XM_006719505.2:c.-38G>C XM_006719505.2:c.-38G>A
ANKS1B transcript variant X7 XM_006719505.1:c.-38= XM_006719505.1:c.-38G>T XM_006719505.1:c.-38G>C XM_006719505.1:c.-38G>A
ANKS1B transcript variant X1 XM_006719504.5:c.-38= XM_006719504.5:c.-38G>T XM_006719504.5:c.-38G>C XM_006719504.5:c.-38G>A
ANKS1B transcript variant X1 XM_006719504.4:c.-38= XM_006719504.4:c.-38G>T XM_006719504.4:c.-38G>C XM_006719504.4:c.-38G>A
ANKS1B transcript variant X2 XM_006719504.3:c.-38= XM_006719504.3:c.-38G>T XM_006719504.3:c.-38G>C XM_006719504.3:c.-38G>A
ANKS1B transcript variant X4 XM_006719504.2:c.-38= XM_006719504.2:c.-38G>T XM_006719504.2:c.-38G>C XM_006719504.2:c.-38G>A
ANKS1B transcript variant X6 XM_006719504.1:c.-38= XM_006719504.1:c.-38G>T XM_006719504.1:c.-38G>C XM_006719504.1:c.-38G>A
ANKS1B transcript variant X9 XM_006719512.5:c.-38= XM_006719512.5:c.-38G>T XM_006719512.5:c.-38G>C XM_006719512.5:c.-38G>A
ANKS1B transcript variant X14 XM_006719512.4:c.-38= XM_006719512.4:c.-38G>T XM_006719512.4:c.-38G>C XM_006719512.4:c.-38G>A
ANKS1B transcript variant X18 XM_006719512.3:c.-38= XM_006719512.3:c.-38G>T XM_006719512.3:c.-38G>C XM_006719512.3:c.-38G>A
ANKS1B transcript variant X16 XM_006719512.2:c.-38= XM_006719512.2:c.-38G>T XM_006719512.2:c.-38G>C XM_006719512.2:c.-38G>A
ANKS1B transcript variant X14 XM_006719512.1:c.-38= XM_006719512.1:c.-38G>T XM_006719512.1:c.-38G>C XM_006719512.1:c.-38G>A
ANKS1B transcript variant X10 XM_006719513.5:c.-38= XM_006719513.5:c.-38G>T XM_006719513.5:c.-38G>C XM_006719513.5:c.-38G>A
ANKS1B transcript variant X15 XM_006719513.4:c.-38= XM_006719513.4:c.-38G>T XM_006719513.4:c.-38G>C XM_006719513.4:c.-38G>A
ANKS1B transcript variant X19 XM_006719513.3:c.-38= XM_006719513.3:c.-38G>T XM_006719513.3:c.-38G>C XM_006719513.3:c.-38G>A
ANKS1B transcript variant X17 XM_006719513.2:c.-38= XM_006719513.2:c.-38G>T XM_006719513.2:c.-38G>C XM_006719513.2:c.-38G>A
ANKS1B transcript variant X15 XM_006719513.1:c.-38= XM_006719513.1:c.-38G>T XM_006719513.1:c.-38G>C XM_006719513.1:c.-38G>A
ANKS1B transcript variant X4 XM_006719507.5:c.-38= XM_006719507.5:c.-38G>T XM_006719507.5:c.-38G>C XM_006719507.5:c.-38G>A
ANKS1B transcript variant X4 XM_006719507.4:c.-38= XM_006719507.4:c.-38G>T XM_006719507.4:c.-38G>C XM_006719507.4:c.-38G>A
ANKS1B transcript variant X6 XM_006719507.3:c.-38= XM_006719507.3:c.-38G>T XM_006719507.3:c.-38G>C XM_006719507.3:c.-38G>A
ANKS1B transcript variant X7 XM_006719507.2:c.-38= XM_006719507.2:c.-38G>T XM_006719507.2:c.-38G>C XM_006719507.2:c.-38G>A
ANKS1B transcript variant X9 XM_006719507.1:c.-38= XM_006719507.1:c.-38G>T XM_006719507.1:c.-38G>C XM_006719507.1:c.-38G>A
ANKS1B transcript variant X11 XM_006719514.5:c.-38= XM_006719514.5:c.-38G>T XM_006719514.5:c.-38G>C XM_006719514.5:c.-38G>A
ANKS1B transcript variant X17 XM_006719514.4:c.-38= XM_006719514.4:c.-38G>T XM_006719514.4:c.-38G>C XM_006719514.4:c.-38G>A
ANKS1B transcript variant X21 XM_006719514.3:c.-38= XM_006719514.3:c.-38G>T XM_006719514.3:c.-38G>C XM_006719514.3:c.-38G>A
ANKS1B transcript variant X18 XM_006719514.2:c.-38= XM_006719514.2:c.-38G>T XM_006719514.2:c.-38G>C XM_006719514.2:c.-38G>A
ANKS1B transcript variant X16 XM_006719514.1:c.-38= XM_006719514.1:c.-38G>T XM_006719514.1:c.-38G>C XM_006719514.1:c.-38G>A
ANKS1B transcript variant X7 XM_011538571.4:c.-38= XM_011538571.4:c.-38G>T XM_011538571.4:c.-38G>C XM_011538571.4:c.-38G>A
ANKS1B transcript variant X10 XM_011538571.3:c.-38= XM_011538571.3:c.-38G>T XM_011538571.3:c.-38G>C XM_011538571.3:c.-38G>A
ANKS1B transcript variant X14 XM_011538571.2:c.-38= XM_011538571.2:c.-38G>T XM_011538571.2:c.-38G>C XM_011538571.2:c.-38G>A
ANKS1B transcript variant X12 XM_011538571.1:c.-38= XM_011538571.1:c.-38G>T XM_011538571.1:c.-38G>C XM_011538571.1:c.-38G>A
ANKS1B transcript variant X3 XM_017019652.3:c.-38= XM_017019652.3:c.-38G>T XM_017019652.3:c.-38G>C XM_017019652.3:c.-38G>A
ANKS1B transcript variant X3 XM_017019652.2:c.-38= XM_017019652.2:c.-38G>T XM_017019652.2:c.-38G>C XM_017019652.2:c.-38G>A
ANKS1B transcript variant X5 XM_017019652.1:c.-38= XM_017019652.1:c.-38G>T XM_017019652.1:c.-38G>C XM_017019652.1:c.-38G>A
ANKS1B transcript variant X12 XM_047429164.1:c.-38= XM_047429164.1:c.-38G>T XM_047429164.1:c.-38G>C XM_047429164.1:c.-38G>A
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#.

8 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1691060512 Apr 01, 2015 (144)
2 EVA_EXAC ss1691060513 Apr 01, 2015 (144)
3 EVA_EXAC ss1691060514 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2192561001 Dec 20, 2016 (150)
5 GNOMAD ss2740058340 Nov 08, 2017 (151)
6 GNOMAD ss2748938077 Nov 08, 2017 (151)
7 GNOMAD ss2914329725 Nov 08, 2017 (151)
8 TOPMED ss4930160444 Apr 27, 2021 (155)
9 ExAC

Submission ignored due to conflicting rows:
Row 1370453 (NC_000012.11:100378052:C:C 98677/98684, NC_000012.11:100378052:C:A 7/98684)
Row 1370454 (NC_000012.11:100378052:C:C 98683/98684, NC_000012.11:100378052:C:G 1/98684)
Row 1370455 (NC_000012.11:100378052:C:C 98682/98684, NC_000012.11:100378052:C:T 2/98684)

- Oct 12, 2018 (152)
10 ExAC

Submission ignored due to conflicting rows:
Row 1370453 (NC_000012.11:100378052:C:C 98677/98684, NC_000012.11:100378052:C:A 7/98684)
Row 1370454 (NC_000012.11:100378052:C:C 98683/98684, NC_000012.11:100378052:C:G 1/98684)
Row 1370455 (NC_000012.11:100378052:C:C 98682/98684, NC_000012.11:100378052:C:T 2/98684)

- Oct 12, 2018 (152)
11 ExAC

Submission ignored due to conflicting rows:
Row 1370453 (NC_000012.11:100378052:C:C 98677/98684, NC_000012.11:100378052:C:A 7/98684)
Row 1370454 (NC_000012.11:100378052:C:C 98683/98684, NC_000012.11:100378052:C:G 1/98684)
Row 1370455 (NC_000012.11:100378052:C:C 98682/98684, NC_000012.11:100378052:C:T 2/98684)

- Oct 12, 2018 (152)
12 gnomAD - Genomes NC_000012.12 - 99984275 Apr 27, 2021 (155)
13 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9294097 (NC_000012.11:100378052:C:C 217731/217738, NC_000012.11:100378052:C:A 7/217738)
Row 9294098 (NC_000012.11:100378052:C:C 217737/217738, NC_000012.11:100378052:C:G 1/217738)
Row 9294099 (NC_000012.11:100378052:C:C 217736/217738, NC_000012.11:100378052:C:T 2/217738)

- Jul 13, 2019 (153)
14 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9294097 (NC_000012.11:100378052:C:C 217731/217738, NC_000012.11:100378052:C:A 7/217738)
Row 9294098 (NC_000012.11:100378052:C:C 217737/217738, NC_000012.11:100378052:C:G 1/217738)
Row 9294099 (NC_000012.11:100378052:C:C 217736/217738, NC_000012.11:100378052:C:T 2/217738)

- Jul 13, 2019 (153)
15 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9294097 (NC_000012.11:100378052:C:C 217731/217738, NC_000012.11:100378052:C:A 7/217738)
Row 9294098 (NC_000012.11:100378052:C:C 217737/217738, NC_000012.11:100378052:C:G 1/217738)
Row 9294099 (NC_000012.11:100378052:C:C 217736/217738, NC_000012.11:100378052:C:T 2/217738)

- Jul 13, 2019 (153)
16 TopMed NC_000012.12 - 99984275 Apr 27, 2021 (155)
17 ALFA NC_000012.12 - 99984275 Apr 27, 2021 (155)
Help

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1691060512, ss2740058340, ss2748938077, ss2914329725 NC_000012.11:100378052:C:A NC_000012.12:99984274:C:A (self)
417161411, 145706101, 2271988896, ss2192561001, ss4930160444 NC_000012.12:99984274:C:A NC_000012.12:99984274:C:A (self)
ss1691060514, ss2740058340 NC_000012.11:100378052:C:G NC_000012.12:99984274:C:G (self)
ss1691060513, ss2740058340 NC_000012.11:100378052:C:T NC_000012.12:99984274:C:T (self)
2271988896 NC_000012.12:99984274:C:T NC_000012.12:99984274:C:T (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 rs765152239

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.post761+d5e8e07