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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.

rs121913386

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:21971018 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
CDKN2A : Missense Variant
Publications
2 citations
Genomic View
See rs on genome
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

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 9 NC_000009.12:g.21971018G>A
GRCh38.p14 chr 9 NC_000009.12:g.21971018G>C
GRCh38.p14 chr 9 NC_000009.12:g.21971018G>T
GRCh37.p13 chr 9 NC_000009.11:g.21971017G>A
GRCh37.p13 chr 9 NC_000009.11:g.21971017G>C
GRCh37.p13 chr 9 NC_000009.11:g.21971017G>T
CDKN2A RefSeqGene (LRG_11) NG_007485.1:g.28474C>T
CDKN2A RefSeqGene (LRG_11) NG_007485.1:g.28474C>G
CDKN2A RefSeqGene (LRG_11) NG_007485.1:g.28474C>A
Gene: CDKN2A, cyclin dependent kinase inhibitor 2A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CDKN2A transcript variant 3 NM_058197.5:c.*264= N/A 3 Prime UTR Variant
CDKN2A transcript variant 6 NM_001363763.2:c.188C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform 6 NP_001350692.1:p.Pro63Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant 6 NM_001363763.2:c.188C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform 6 NP_001350692.1:p.Pro63Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant 6 NM_001363763.2:c.188C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform 6 NP_001350692.1:p.Pro63His P (Pro) > H (His) Missense Variant
CDKN2A transcript variant 1 NM_000077.5:c.341C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p16INK4a NP_000068.1:p.Pro114Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant 1 NM_000077.5:c.341C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p16INK4a NP_000068.1:p.Pro114Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant 1 NM_000077.5:c.341C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p16INK4a NP_000068.1:p.Pro114His P (Pro) > H (His) Missense Variant
CDKN2A transcript variant 4 NM_058195.4:c.384C>T A [GCC] > A [GCT] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p14ARF NP_478102.2:p.Ala128= A (Ala) > A (Ala) Synonymous Variant
CDKN2A transcript variant 4 NM_058195.4:c.384C>G A [GCC] > A [GCG] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p14ARF NP_478102.2:p.Ala128= A (Ala) > A (Ala) Synonymous Variant
CDKN2A transcript variant 4 NM_058195.4:c.384C>A A [GCC] > A [GCA] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p14ARF NP_478102.2:p.Ala128= A (Ala) > A (Ala) Synonymous Variant
CDKN2A transcript variant 5 NM_001195132.2:c.341C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p16gamma NP_001182061.1:p.Pro114Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant 5 NM_001195132.2:c.341C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p16gamma NP_001182061.1:p.Pro114Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant 5 NM_001195132.2:c.341C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform p16gamma NP_001182061.1:p.Pro114His P (Pro) > H (His) Missense Variant
CDKN2A transcript variant X1 XM_011517675.3:c.341C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X1 XP_011515977.1:p.Pro114Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant X1 XM_011517675.3:c.341C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X1 XP_011515977.1:p.Pro114Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant X1 XM_011517675.3:c.341C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X1 XP_011515977.1:p.Pro114His P (Pro) > H (His) Missense Variant
CDKN2A transcript variant X4 XM_011517676.3:c.341C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X2 XP_011515978.1:p.Pro114Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant X4 XM_011517676.3:c.341C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X2 XP_011515978.1:p.Pro114Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant X4 XM_011517676.3:c.341C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X2 XP_011515978.1:p.Pro114His P (Pro) > H (His) Missense Variant
CDKN2A transcript variant X2 XM_047422596.1:c.188C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278552.1:p.Pro63Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant X2 XM_047422596.1:c.188C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278552.1:p.Pro63Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant X2 XM_047422596.1:c.188C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278552.1:p.Pro63His P (Pro) > H (His) Missense Variant
CDKN2A transcript variant X5 XM_047422597.1:c.188C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X4 XP_047278553.1:p.Pro63Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant X5 XM_047422597.1:c.188C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X4 XP_047278553.1:p.Pro63Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant X5 XM_047422597.1:c.188C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X4 XP_047278553.1:p.Pro63His P (Pro) > H (His) Missense Variant
CDKN2A transcript variant X3 XM_047422598.1:c.188C>T P [CCC] > L [CTC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278554.1:p.Pro63Leu P (Pro) > L (Leu) Missense Variant
CDKN2A transcript variant X3 XM_047422598.1:c.188C>G P [CCC] > R [CGC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278554.1:p.Pro63Arg P (Pro) > R (Arg) Missense Variant
CDKN2A transcript variant X3 XM_047422598.1:c.188C>A P [CCC] > H [CAC] Coding Sequence Variant
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278554.1:p.Pro63His P (Pro) > H (His) 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: A (allele ID: 88528 )
ClinVar Accession Disease Names Clinical Significance
RCV000424989.1 Melanoma Likely-Pathogenic
RCV000425751.1 Malignant melanoma of skin Likely-Pathogenic
RCV000435136.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000442671.1 Squamous cell carcinoma of the skin Likely-Pathogenic
RCV000444494.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000569438.2 Hereditary cancer-predisposing syndrome Pathogenic
RCV000795116.6 Familial melanoma Conflicting-Interpretations-Of-Pathogenicity
Allele: T (allele ID: 363262 )
ClinVar Accession Disease Names Clinical Significance
RCV000420475.1 Squamous cell carcinoma of the skin Likely-Pathogenic
RCV000429868.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000438111.1 Squamous cell lung carcinoma Likely-Pathogenic
RCV000440098.1 Malignant melanoma of skin Likely-Pathogenic
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 G= A C T
GRCh38.p14 chr 9 NC_000009.12:g.21971018= NC_000009.12:g.21971018G>A NC_000009.12:g.21971018G>C NC_000009.12:g.21971018G>T
GRCh37.p13 chr 9 NC_000009.11:g.21971017= NC_000009.11:g.21971017G>A NC_000009.11:g.21971017G>C NC_000009.11:g.21971017G>T
CDKN2A RefSeqGene (LRG_11) NG_007485.1:g.28474= NG_007485.1:g.28474C>T NG_007485.1:g.28474C>G NG_007485.1:g.28474C>A
CDKN2A transcript variant 3 NM_058197.5:c.*264= NM_058197.5:c.*264C>T NM_058197.5:c.*264C>G NM_058197.5:c.*264C>A
CDKN2A transcript variant 3 NM_058197.4:c.*264= NM_058197.4:c.*264C>T NM_058197.4:c.*264C>G NM_058197.4:c.*264C>A
CDKN2A transcript variant 1 NM_000077.5:c.341= NM_000077.5:c.341C>T NM_000077.5:c.341C>G NM_000077.5:c.341C>A
CDKN2A transcript variant 1 NM_000077.4:c.341= NM_000077.4:c.341C>T NM_000077.4:c.341C>G NM_000077.4:c.341C>A
CDKN2A transcript variant 4 NM_058195.4:c.384= NM_058195.4:c.384C>T NM_058195.4:c.384C>G NM_058195.4:c.384C>A
CDKN2A transcript variant 4 NM_058195.3:c.384= NM_058195.3:c.384C>T NM_058195.3:c.384C>G NM_058195.3:c.384C>A
CDKN2A transcript variant 6 NM_001363763.2:c.188= NM_001363763.2:c.188C>T NM_001363763.2:c.188C>G NM_001363763.2:c.188C>A
CDKN2A transcript variant 6 NM_001363763.1:c.188= NM_001363763.1:c.188C>T NM_001363763.1:c.188C>G NM_001363763.1:c.188C>A
CDKN2A transcript variant 5 NM_001195132.2:c.341= NM_001195132.2:c.341C>T NM_001195132.2:c.341C>G NM_001195132.2:c.341C>A
CDKN2A transcript variant 5 NM_001195132.1:c.341= NM_001195132.1:c.341C>T NM_001195132.1:c.341C>G NM_001195132.1:c.341C>A
CDKN2A transcript variant X1 XM_011517675.3:c.341= XM_011517675.3:c.341C>T XM_011517675.3:c.341C>G XM_011517675.3:c.341C>A
CDKN2A transcript variant X2 XM_011517675.2:c.341= XM_011517675.2:c.341C>T XM_011517675.2:c.341C>G XM_011517675.2:c.341C>A
CDKN2A transcript variant X2 XM_011517675.1:c.341= XM_011517675.1:c.341C>T XM_011517675.1:c.341C>G XM_011517675.1:c.341C>A
CDKN2A transcript variant X4 XM_011517676.3:c.341= XM_011517676.3:c.341C>T XM_011517676.3:c.341C>G XM_011517676.3:c.341C>A
CDKN2A transcript variant X3 XM_011517676.2:c.341= XM_011517676.2:c.341C>T XM_011517676.2:c.341C>G XM_011517676.2:c.341C>A
CDKN2A transcript variant X5 XM_011517676.1:c.341= XM_011517676.1:c.341C>T XM_011517676.1:c.341C>G XM_011517676.1:c.341C>A
CDKN2A transcript variant X2 XM_047422596.1:c.188= XM_047422596.1:c.188C>T XM_047422596.1:c.188C>G XM_047422596.1:c.188C>A
CDKN2A transcript variant X3 XM_047422598.1:c.188= XM_047422598.1:c.188C>T XM_047422598.1:c.188C>G XM_047422598.1:c.188C>A
CDKN2A transcript variant 2 NM_058196.1:c.188= NM_058196.1:c.188C>T NM_058196.1:c.188C>G NM_058196.1:c.188C>A
CDKN2A transcript variant X5 XM_047422597.1:c.188= XM_047422597.1:c.188C>T XM_047422597.1:c.188C>G XM_047422597.1:c.188C>A
cyclin-dependent kinase inhibitor 2A isoform p16INK4a NP_000068.1:p.Pro114= NP_000068.1:p.Pro114Leu NP_000068.1:p.Pro114Arg NP_000068.1:p.Pro114His
cyclin-dependent kinase inhibitor 2A isoform p14ARF NP_478102.2:p.Ala128= NP_478102.2:p.Ala128= NP_478102.2:p.Ala128= NP_478102.2:p.Ala128=
cyclin-dependent kinase inhibitor 2A isoform 6 NP_001350692.1:p.Pro63= NP_001350692.1:p.Pro63Leu NP_001350692.1:p.Pro63Arg NP_001350692.1:p.Pro63His
cyclin-dependent kinase inhibitor 2A isoform p16gamma NP_001182061.1:p.Pro114= NP_001182061.1:p.Pro114Leu NP_001182061.1:p.Pro114Arg NP_001182061.1:p.Pro114His
cyclin-dependent kinase inhibitor 2A isoform X1 XP_011515977.1:p.Pro114= XP_011515977.1:p.Pro114Leu XP_011515977.1:p.Pro114Arg XP_011515977.1:p.Pro114His
cyclin-dependent kinase inhibitor 2A isoform X2 XP_011515978.1:p.Pro114= XP_011515978.1:p.Pro114Leu XP_011515978.1:p.Pro114Arg XP_011515978.1:p.Pro114His
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278552.1:p.Pro63= XP_047278552.1:p.Pro63Leu XP_047278552.1:p.Pro63Arg XP_047278552.1:p.Pro63His
cyclin-dependent kinase inhibitor 2A isoform X3 XP_047278554.1:p.Pro63= XP_047278554.1:p.Pro63Leu XP_047278554.1:p.Pro63Arg XP_047278554.1:p.Pro63His
cyclin-dependent kinase inhibitor 2A isoform X4 XP_047278553.1:p.Pro63= XP_047278553.1:p.Pro63Leu XP_047278553.1:p.Pro63Arg XP_047278553.1:p.Pro63His
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#.

11 SubSNP, 11 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DF-BWCC ss275515243 Nov 22, 2010 (133)
2 YSAMUELS ss537708038 Jul 17, 2012 (137)
3 YSAMUELS ss1849954507 Feb 12, 2016 (147)
4 CLINVAR ss2137498206 Apr 13, 2017 (150)
5 CLINVAR ss2137504602 Apr 18, 2017 (150)
6 GNOMAD ss2737540689 Nov 08, 2017 (151)
7 CSS-BFX ss5442109152 Oct 16, 2022 (156)
8 CSS-BFX ss5442109153 Oct 16, 2022 (156)
9 CSS-BFX ss5442109154 Oct 16, 2022 (156)
10 EVA ss5799401689 Oct 16, 2022 (156)
11 EVA ss5935980455 Oct 16, 2022 (156)
12 ClinVar RCV000420475.1 Oct 12, 2018 (152)
13 ClinVar RCV000424989.1 Oct 12, 2018 (152)
14 ClinVar RCV000425751.1 Oct 12, 2018 (152)
15 ClinVar RCV000429868.1 Oct 12, 2018 (152)
16 ClinVar RCV000435136.1 Oct 12, 2018 (152)
17 ClinVar RCV000438111.1 Oct 12, 2018 (152)
18 ClinVar RCV000440098.1 Oct 12, 2018 (152)
19 ClinVar RCV000442671.1 Oct 12, 2018 (152)
20 ClinVar RCV000444494.1 Oct 12, 2018 (152)
21 ClinVar RCV000569438.2 Apr 26, 2021 (155)
22 ClinVar RCV000795116.6 Oct 16, 2022 (156)
Help

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1849954507, ss2737540689, ss5442109152, ss5799401689, ss5935980455 NC_000009.11:21971016:G:A NC_000009.12:21971017:G:A (self)
RCV000424989.1, RCV000425751.1, RCV000435136.1, RCV000442671.1, RCV000444494.1, RCV000569438.2, RCV000795116.6, ss275515243, ss537708038 NC_000009.12:21971017:G:A NC_000009.12:21971017:G:A (self)
ss5442109153, ss5935980455 NC_000009.11:21971016:G:C NC_000009.12:21971017:G:C
ss5442109154, ss5935980455 NC_000009.11:21971016:G:T NC_000009.12:21971017:G:T
RCV000420475.1, RCV000429868.1, RCV000438111.1, RCV000440098.1, ss2137498206, ss2137504602 NC_000009.12:21971017:G:T NC_000009.12:21971017:G:T (self)
Help

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

2 citations for rs121913386
PMID Title Author Year Journal
25157968 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE et al. 2014 The Journal of molecular diagnostics
26619011 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT et al. 2016 Nature biotechnology
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