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rs746834149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 5 Malignant melanoma predisposing mutation
Make rs746834149(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position21974724
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs746834149
ebirs746834149
HLIrs746834149
Exacrs746834149
Varsomers746834149
Maprs746834149
PheGenIrs746834149
hapmaprs746834149
1000 genomesrs746834149
hgdprs746834149
ensemblrs746834149
gopubmedrs746834149
geneviewrs746834149
scholarrs746834149
googlers746834149
pharmgkbrs746834149
gwascentralrs746834149
openSNPrs746834149
23andMers746834149
23andMe allrs746834149
SNP Nexus

SNPshotrs746834149
SNPdbers746834149
MSV3drs746834149
GWAS Ctlgrs746834149
Max Magnitude5
rs746834149, also known as c.104G>A, p.Gly35Ala and G35A, represents a rare mutation in the CDKN2A gene on chromosome 9. Note that dbSNP shows the mutation in plus orientation as C>T, but ClinVar and a paper cited below cite evidence for the observed mutation in minus orientation as G>A.

The rs746834149(A) 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 rs746834149(G,T;G,T)
Alt rs746834149(G,T;G,T)
Reference rs746834149(C;C)
Significance Unknown
Disease Hereditary cutaneous melanoma
Variation info
Gene CDKN2A
CLNDBN Hereditary cutaneous melanoma
Reversed 0
HGVS NC_000009.11:g.21974723C>T
CLNSRC
CLNACC RCV000168280.1,