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rs201326893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
Make rs201326893(A;A)
Make rs201326893(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position89919714
GeneMC1R
is asnp
is mentioned by
dbSNPrs201326893
dbSNP (old)rs201326893
ClinGenrs201326893
ebirs201326893
HLIrs201326893
Exacrs201326893
Gnomadrs201326893
Varsomers201326893
Maprs201326893
PheGenIrs201326893
Biobankrs201326893
1000 genomesrs201326893
hgdprs201326893
ensemblrs201326893
gopubmedrs201326893
geneviewrs201326893
scholarrs201326893
googlers201326893
pharmgkbrs201326893
gwascentralrs201326893
openSNPrs201326893
23andMers201326893
23andMe allrs201326893
SNPshotrs201326893
SNPdbers201326893
MSV3drs201326893
GWAS Ctlgrs201326893
Max Magnitude0

MC1R gene, c.456C>A (p.Tyr152Ter)

Conflicting reports in ClinVar as to pathogenicity of the minor allele

ClinVar
Risk rs201326893(A;A)
Alt rs201326893(A;A)
Reference Rs201326893(C;C)
Significance Pathogenic
Disease not provided Malignant Melanoma Susceptibility Cutaneous malignant melanoma 5
Variation info
Gene MC1R
CLNDBN not provided Malignant Melanoma Susceptibility Cutaneous malignant melanoma 5
Reversed 0
HGVS NC_000016.9:g.89986122C>A
CLNSRC Illumina
CLNACC RCV000254860.1, RCV000371342.1, RCV000470714.1,