rs201326893

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common/normal

Make rs201326893(A;A)

Make rs201326893(A;C)

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

89919714

Gene

MC1R

is a	snp
is	mentioned by
dbSNP	rs201326893
dbSNP (classic)	rs201326893
ClinGen	rs201326893
ebi	rs201326893
HLI	rs201326893
Exac	rs201326893
Gnomad	rs201326893
Varsome	rs201326893
LitVar	rs201326893
Map	rs201326893
PheGenI	rs201326893
Biobank	rs201326893
1000 genomes	rs201326893
hgdp	rs201326893
ensembl	rs201326893
geneview	rs201326893
scholar	rs201326893
google	rs201326893
pharmgkb	rs201326893
gwascentral	rs201326893
openSNP	rs201326893
23andMe	rs201326893
SNPshot	rs201326893
SNPdbe	rs201326893
MSV3d	rs201326893
GWAS Ctlg	rs201326893

Max Magnitude

0

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,