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rs794727898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727898(-;-)
Make rs794727898(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position28016127
GeneOCA2
is asnp
is mentioned by
dbSNPrs794727898
dbSNP (classic)rs794727898
ClinGenrs794727898
ebirs794727898
HLIrs794727898
Exacrs794727898
Gnomadrs794727898
Varsomers794727898
LitVarrs794727898
Maprs794727898
PheGenIrs794727898
Biobankrs794727898
1000 genomesrs794727898
hgdprs794727898
ensemblrs794727898
geneviewrs794727898
scholarrs794727898
googlers794727898
pharmgkbrs794727898
gwascentralrs794727898
openSNPrs794727898
23andMers794727898
SNPshotrs794727898
SNPdbers794727898
MSV3drs794727898
GWAS Ctlgrs794727898
Max Magnitude0
ClinVar
Risk rs794727898(-;-)
Alt rs794727898(-;-)
Reference Rs794727898(C;C)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28261273delG
CLNSRC
CLNACC RCV000180124.1,