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rs104894097

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 5 Malignant melanoma predisposing mutation
(G;G) 0 common in complete genomics


Make rs104894097(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position21974757
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs104894097
dbSNP (old)rs104894097
ClinGenrs104894097
ebirs104894097
HLIrs104894097
Exacrs104894097
Varsomers104894097
Maprs104894097
PheGenIrs104894097
Biobankrs104894097
1000 genomesrs104894097
hgdprs104894097
ensemblrs104894097
gopubmedrs104894097
geneviewrs104894097
scholarrs104894097
googlers104894097
pharmgkbrs104894097
gwascentralrs104894097
openSNPrs104894097
23andMers104894097
23andMe allrs104894097
SNP Nexus

SNPshotrs104894097
SNPdbers104894097
MSV3drs104894097
GWAS Ctlgrs104894097
Max Magnitude5

rs104894097, also known as c.71G>C, p.Arg24Pro and R24P, represents a rare mutation in the CDKN2A gene on chromosome 9.

The rs104894097(C) 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]

OMIM600160
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894097(A;A) rs104894097(C;C)
Alt rs104894097(A;A) rs104894097(C;C)
Reference Rs104894097(G;G)
Significance Other
Disease Melanoma Hereditary cancer-predisposing syndrome not provided Melanoma-pancreatic cancer syndrome Hereditary cutaneous melanoma
Variation info
Gene CDKN2A
CLNDBN Melanoma, cutaneous malignant, susceptibility to, 2 Hereditary cancer-predisposing syndrome not provided Melanoma-pancreatic cancer syndrome Hereditary cutaneous melanoma
Reversed 1
HGVS NC_000009.11:g.21974756C>G; NC_000009.11:g.21974756C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010022.2, RCV000167312.3, RCV000236320.1, RCV000410204.1, RCV000472219.1, RCV000473279.1,