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

rs144812594

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144812594(A;A)
Make rs144812594(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position27986615
GeneOCA2
is asnp
is mentioned by
dbSNPrs144812594
ebirs144812594
HLIrs144812594
Exacrs144812594
Varsomers144812594
Maprs144812594
PheGenIrs144812594
hapmaprs144812594
1000 genomesrs144812594
hgdprs144812594
ensemblrs144812594
gopubmedrs144812594
geneviewrs144812594
scholarrs144812594
googlers144812594
pharmgkbrs144812594
gwascentralrs144812594
openSNPrs144812594
23andMers144812594
23andMe allrs144812594
SNP Nexus

SNPshotrs144812594
SNPdbers144812594
MSV3drs144812594
GWAS Ctlgrs144812594
Max Magnitude0
ClinVar
Risk rs144812594(A;A)
Alt rs144812594(A;A)
Reference rs144812594(G;G)
Significance Probable-Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 0
HGVS NC_000015.9:g.28231761G>A
CLNSRC
CLNACC RCV000193262.1,