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dbSNP Short Genetic Variations

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.

rs1001916923

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr12:21908147 (GRCh38.p12) 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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABCC9 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr 12 NC_000012.12:g.21908147A>G
GRCh38.p12 chr 12 NC_000012.12:g.21908147A>T
GRCh37.p13 chr 12 NC_000012.11:g.22061081A>G
GRCh37.p13 chr 12 NC_000012.11:g.22061081A>T
ABCC9 RefSeqGene (LRG_377) NG_012819.1:g.33548T>C
ABCC9 RefSeqGene (LRG_377) NG_012819.1:g.33548T>A
Gene: ABCC9, ATP binding cassette subfamily C member 9 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCC9 transcript variant SUR2B NM_020297.3:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform SUR2B NP_064693.2:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant SUR2B NM_020297.3:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform SUR2B NP_064693.2:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant SUR2A NM_005691.3:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform SUR2A NP_005682.2:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant SUR2A NM_005691.3:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform SUR2A NP_005682.2:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X1 XM_005253284.4:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_005253341.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X1 XM_005253284.4:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_005253341.1:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X2 XM_005253286.4:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_005253343.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X2 XM_005253286.4:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_005253343.1:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X3 XM_011520545.3:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_011518847.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X3 XM_011520545.3:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_011518847.1:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X4 XM_005253288.4:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_005253345.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X4 XM_005253288.4:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X1 XP_005253345.1:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X5 XM_005253287.5:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X2 XP_005253344.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X5 XM_005253287.5:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X2 XP_005253344.1:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X6 XM_005253289.4:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X3 XP_005253346.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X6 XM_005253289.4:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X3 XP_005253346.1:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X7 XM_006719025.4:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X4 XP_006719088.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X7 XM_006719025.4:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X4 XP_006719088.1:p.Val462Asp V (Val) > D (Asp) Missense Variant
ABCC9 transcript variant X8 XM_005253290.4:c.1385T>C V [GTC] > A [GCC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X5 XP_005253347.1:p.Val462Ala V (Val) > A (Ala) Missense Variant
ABCC9 transcript variant X8 XM_005253290.4:c.1385T>A V [GTC] > D [GAC] Coding Sequence Variant
ATP-binding cassette sub-family C member 9 isoform X5 XP_005253347.1:p.Val462Asp V (Val) > D (Asp) Missense 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: G (allele ID: 408618 )
ClinVar Accession Disease Names Clinical Significance
RCV000486887.1 not provided Likely-Pathogenic
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").

None
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 A= G T Note
GRCh38.p12 chr 12 NC_000012.12:g.21...

NC_000012.12:g.21908147A=

NC_000012.12:g.21...

NC_000012.12:g.21908147A>G

NC_000012.12:g.21...

NC_000012.12:g.21908147A>T

GRCh37.p13 chr 12 NC_000012.11:g.22...

NC_000012.11:g.22061081A=

NC_000012.11:g.22...

NC_000012.11:g.22061081A>G

NC_000012.11:g.22...

NC_000012.11:g.22061081A>T

ABCC9 RefSeqGene (LRG_377) NG_012819.1:g.335...

NG_012819.1:g.33548T=

NG_012819.1:g.335...

NG_012819.1:g.33548T>C

NG_012819.1:g.335...

NG_012819.1:g.33548T>A

ABCC9 transcript variant SUR2B NM_020297.3:c.1385T= NM_020297.3:c.138...

NM_020297.3:c.1385T>C

NM_020297.3:c.138...

NM_020297.3:c.1385T>A

ABCC9 transcript variant SUR2B NM_020297.2:c.1385T= NM_020297.2:c.138...

NM_020297.2:c.1385T>C

NM_020297.2:c.138...

NM_020297.2:c.1385T>A

ABCC9 transcript variant SUR2A NM_005691.3:c.1385T= NM_005691.3:c.138...

NM_005691.3:c.1385T>C

NM_005691.3:c.138...

NM_005691.3:c.1385T>A

ABCC9 transcript variant SUR2A NM_005691.2:c.1385T= NM_005691.2:c.138...

NM_005691.2:c.1385T>C

NM_005691.2:c.138...

NM_005691.2:c.1385T>A

ABCC9 transcript variant X5 XM_005253287.5:c....

XM_005253287.5:c.1385T=

XM_005253287.5:c....

XM_005253287.5:c.1385T>C

XM_005253287.5:c....

XM_005253287.5:c.1385T>A

ABCC9 transcript variant X4 XM_005253287.1:c....

XM_005253287.1:c.1385T=

XM_005253287.1:c....

XM_005253287.1:c.1385T>C

XM_005253287.1:c....

XM_005253287.1:c.1385T>A

ABCC9 transcript variant X7 XM_006719025.4:c....

XM_006719025.4:c.1385T=

XM_006719025.4:c....

XM_006719025.4:c.1385T>C

XM_006719025.4:c....

XM_006719025.4:c.1385T>A

ABCC9 transcript variant X1 XM_005253284.4:c....

XM_005253284.4:c.1385T=

XM_005253284.4:c....

XM_005253284.4:c.1385T>C

XM_005253284.4:c....

XM_005253284.4:c.1385T>A

ABCC9 transcript variant X1 XM_005253284.1:c....

XM_005253284.1:c.1385T=

XM_005253284.1:c....

XM_005253284.1:c.1385T>C

XM_005253284.1:c....

XM_005253284.1:c.1385T>A

ABCC9 transcript variant X6 XM_005253289.4:c....

XM_005253289.4:c.1385T=

XM_005253289.4:c....

XM_005253289.4:c.1385T>C

XM_005253289.4:c....

XM_005253289.4:c.1385T>A

ABCC9 transcript variant X6 XM_005253289.1:c....

XM_005253289.1:c.1385T=

XM_005253289.1:c....

XM_005253289.1:c.1385T>C

XM_005253289.1:c....

XM_005253289.1:c.1385T>A

ABCC9 transcript variant X4 XM_005253288.4:c....

XM_005253288.4:c.1385T=

XM_005253288.4:c....

XM_005253288.4:c.1385T>C

XM_005253288.4:c....

XM_005253288.4:c.1385T>A

ABCC9 transcript variant X5 XM_005253288.1:c....

XM_005253288.1:c.1385T=

XM_005253288.1:c....

XM_005253288.1:c.1385T>C

XM_005253288.1:c....

XM_005253288.1:c.1385T>A

ABCC9 transcript variant X8 XM_005253290.4:c....

XM_005253290.4:c.1385T=

XM_005253290.4:c....

XM_005253290.4:c.1385T>C

XM_005253290.4:c....

XM_005253290.4:c.1385T>A

ABCC9 transcript variant X7 XM_005253290.1:c....

XM_005253290.1:c.1385T=

XM_005253290.1:c....

XM_005253290.1:c.1385T>C

XM_005253290.1:c....

XM_005253290.1:c.1385T>A

ABCC9 transcript variant X2 XM_005253286.4:c....

XM_005253286.4:c.1385T=

XM_005253286.4:c....

XM_005253286.4:c.1385T>C

XM_005253286.4:c....

XM_005253286.4:c.1385T>A

ABCC9 transcript variant X3 XM_005253286.1:c....

XM_005253286.1:c.1385T=

XM_005253286.1:c....

XM_005253286.1:c.1385T>C

XM_005253286.1:c....

XM_005253286.1:c.1385T>A

ABCC9 transcript variant X3 XM_011520545.3:c....

XM_011520545.3:c.1385T=

XM_011520545.3:c....

XM_011520545.3:c.1385T>C

XM_011520545.3:c....

XM_011520545.3:c.1385T>A

ATP-binding cassette sub-family C member 9 isoform SUR2B NP_064693.2:p.Val...

NP_064693.2:p.Val462=

NP_064693.2:p.Val...

NP_064693.2:p.Val462Ala

NP_064693.2:p.Val...

NP_064693.2:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform SUR2A NP_005682.2:p.Val...

NP_005682.2:p.Val462=

NP_005682.2:p.Val...

NP_005682.2:p.Val462Ala

NP_005682.2:p.Val...

NP_005682.2:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X2 XP_005253344.1:p....

XP_005253344.1:p.Val462=

XP_005253344.1:p....

XP_005253344.1:p.Val462Ala

XP_005253344.1:p....

XP_005253344.1:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X4 XP_006719088.1:p....

XP_006719088.1:p.Val462=

XP_006719088.1:p....

XP_006719088.1:p.Val462Ala

XP_006719088.1:p....

XP_006719088.1:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X1 XP_005253341.1:p....

XP_005253341.1:p.Val462=

XP_005253341.1:p....

XP_005253341.1:p.Val462Ala

XP_005253341.1:p....

XP_005253341.1:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X3 XP_005253346.1:p....

XP_005253346.1:p.Val462=

XP_005253346.1:p....

XP_005253346.1:p.Val462Ala

XP_005253346.1:p....

XP_005253346.1:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X1 XP_005253345.1:p....

XP_005253345.1:p.Val462=

XP_005253345.1:p....

XP_005253345.1:p.Val462Ala

XP_005253345.1:p....

XP_005253345.1:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X5 XP_005253347.1:p....

XP_005253347.1:p.Val462=

XP_005253347.1:p....

XP_005253347.1:p.Val462Ala

XP_005253347.1:p....

XP_005253347.1:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X1 XP_005253343.1:p....

XP_005253343.1:p.Val462=

XP_005253343.1:p....

XP_005253343.1:p.Val462Ala

XP_005253343.1:p....

XP_005253343.1:p.Val462Asp

ATP-binding cassette sub-family C member 9 isoform X1 XP_011518847.1:p....

XP_011518847.1:p.Val462=

XP_011518847.1:p....

XP_011518847.1:p.Val462Ala

XP_011518847.1:p....

XP_011518847.1:p.Val462Asp

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#.

2 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137523010 Jun 02, 2017 (150)
2 HUMAN_LONGEVITY ss2188416770 Dec 20, 2016 (150)
3 ClinVar RCV000486887.1 Oct 12, 2018 (152)
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
ss2137523010, ss2188416770 NC_000012.12:21908146:A= NC_000012.12:21908146:A= (self)
RCV000486887.1, ss2137523010 NC_000012.12:21908146:A>G NC_000012.12:21908146:A>G (self)
ss2188416770 NC_000012.12:21908146:A>T NC_000012.12:21908146:A>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 rs1001916923

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.post63+3f7b20b