Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894094(G;T)
Make rs104894094(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position21971058
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs104894094
ebirs104894094
HLIrs104894094
Exacrs104894094
Varsomers104894094
Maprs104894094
PheGenIrs104894094
hapmaprs104894094
1000 genomesrs104894094
hgdprs104894094
ensemblrs104894094
gopubmedrs104894094
geneviewrs104894094
scholarrs104894094
googlers104894094
pharmgkbrs104894094
gwascentralrs104894094
openSNPrs104894094
23andMers104894094
23andMe allrs104894094
SNP Nexus

SNPshotrs104894094
SNPdbers104894094
MSV3drs104894094
GWAS Ctlgrs104894094
Max Magnitude0
OMIM600160
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894094(C,T;C,T)
Alt rs104894094(C,T;C,T)
Reference rs104894094(G;G)
Significance Other
Disease Melanoma Melanoma-pancreatic cancer syndrome Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene CDKN2A
CLNDBN Melanoma, cutaneous malignant, susceptibility to, 2 Melanoma-pancreatic cancer syndrome Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000009.11:g.21971057C>A; NC_000009.11:g.21971057C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010018.2, RCV000010019.2, RCV000115334.5, RCV000196633.2, RCV000212400.1, RCV000196728.1, RCV000216848.1,