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rs1800586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Malignant melanoma predisposing mutation
Make rs1800586(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position21974861
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs1800586
ebirs1800586
HLIrs1800586
Exacrs1800586
Varsomers1800586
Maprs1800586
PheGenIrs1800586
hapmaprs1800586
1000 genomesrs1800586
hgdprs1800586
ensemblrs1800586
gopubmedrs1800586
geneviewrs1800586
scholarrs1800586
googlers1800586
pharmgkbrs1800586
gwascentralrs1800586
openSNPrs1800586
23andMers1800586
23andMe allrs1800586
SNP Nexus

SNPshotrs1800586
SNPdbers1800586
MSV3drs1800586
GWAS Ctlgrs1800586
Max Magnitude5

rs1800586, also known as c.-34G>T, represents a rare mutation in the CDKN2A gene on chromosome 9.

The rs1800586(T) allele is considered pathogenic in a dominant manner for malignant melanoma, based on sources in ClinVar and elsewhere. CDKN2A mutations may also predispose to other types of cancer.[PMID 12072543OA-icon.png],[PMID 16234564OA-icon.png]


ClinVar
Risk rs1800586(C,T;C,T)
Alt rs1800586(C,T;C,T)
Reference rs1800586(G;G)
Significance Pathogenic
Disease not provided Hereditary cutaneous melanoma not specified
Variation info
Gene CDKN2A
CLNDBN not provided Hereditary cutaneous melanoma not specified
Reversed 1
HGVS NC_000009.11:g.21974860C>A; NC_000009.11:g.21974860C>G
CLNSRC
CLNACC RCV000160410.2, RCV000168189.3, RCV000236694.1,