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

rs4785763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.5 2x higher risk for melanoma
(A;C) 1.5 1.5x higher risk for melanoma
(C;C) 0 common
ReferenceGRCh38 38.1/141
Chromosome16
Position90000528
GeneAFG3L1P
is asnp
is mentioned by
dbSNPrs4785763
ebirs4785763
HLIrs4785763
Exacrs4785763
Varsomers4785763
Maprs4785763
PheGenIrs4785763
hapmaprs4785763
1000 genomesrs4785763
hgdprs4785763
ensemblrs4785763
gopubmedrs4785763
geneviewrs4785763
scholarrs4785763
googlers4785763
pharmgkbrs4785763
gwascentralrs4785763
openSNPrs4785763
23andMers4785763
23andMe allrs4785763
SNP Nexus

SNPshotrs4785763
SNPdbers4785763
MSV3drs4785763
GWAS Ctlgrs4785763
GMAF0.2847
Max Magnitude1.5
rs4785763 is a SNP near the MC1R gene, which encodes the melanocortin 1 receptor.
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 19578364OA-icon.png]
Trait Melanoma
Title Genome-wide association study identifies three loci associated with melanoma risk
Risk Allele A
P-val 6E-22
Odds Ratio 1.36 [1.28-1.45]

[PMID 24270849OA-icon.png] rs4785763 was found to be associated with melanoma based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.

[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

[PMID 19340012OA-icon.png] Genome-wide association study of tanning phenotype in a population of European ancestry.


GET Evidence
rs4785763
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.675
summary