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rs777948908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 5 Malignant melanoma predisposing mutation
Make rs777948908(A;A)
Make rs777948908(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position21974722
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs777948908
ebirs777948908
HLIrs777948908
Exacrs777948908
Varsomers777948908
Maprs777948908
PheGenIrs777948908
hapmaprs777948908
1000 genomesrs777948908
hgdprs777948908
ensemblrs777948908
gopubmedrs777948908
geneviewrs777948908
scholarrs777948908
googlers777948908
pharmgkbrs777948908
gwascentralrs777948908
openSNPrs777948908
23andMers777948908
23andMe allrs777948908
SNP Nexus

SNPshotrs777948908
SNPdbers777948908
MSV3drs777948908
GWAS Ctlgrs777948908
Max Magnitude5
rs777948908, also known as c.106G>C and Ala36Pro as named in papers, represents a rare mutation in the CDKN2A gene on chromosome 9. Note though that the mutation is named based on minus strand orientation, but in dbSNP, the RefSNP orientation is the plus strand, and to make this even more complex, the mutation reported in the paper cited below is the Ala36Pro (G>C) variant rather than the Ala36Ser (G>T) variant referenced in dbSNP.

The rs777948908(G) allele - in plus strand orientation! - 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]