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rs780296175

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs780296175(A;A)
Make rs780296175(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position27871191
GeneOCA2
is asnp
is mentioned by
dbSNPrs780296175
ebirs780296175
HLIrs780296175
Exacrs780296175
Varsomers780296175
Maprs780296175
PheGenIrs780296175
hapmaprs780296175
1000 genomesrs780296175
hgdprs780296175
ensemblrs780296175
gopubmedrs780296175
geneviewrs780296175
scholarrs780296175
googlers780296175
pharmgkbrs780296175
gwascentralrs780296175
openSNPrs780296175
23andMers780296175
23andMe allrs780296175
SNP Nexus

SNPshotrs780296175
SNPdbers780296175
MSV3drs780296175
GWAS Ctlgrs780296175
Max Magnitude0
ClinVar
Risk rs780296175(A;A)
Alt rs780296175(A;A)
Reference rs780296175(G;G)
Significance Probable-Pathogenic
Disease not provided Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN not provided Tyrosinase-positive oculocutaneous albinism
Reversed 0
HGVS NC_000015.9:g.28116337G>A
CLNSRC
CLNACC RCV000176150.1, RCV000192656.1,