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rs879253729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253729(C;C)
Make rs879253729(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position27926237
GeneOCA2
is asnp
is mentioned by
dbSNPrs879253729
dbSNP (classic)rs879253729
ClinGenrs879253729
ebirs879253729
HLIrs879253729
Exacrs879253729
Gnomadrs879253729
Varsomers879253729
LitVarrs879253729
Maprs879253729
PheGenIrs879253729
Biobankrs879253729
1000 genomesrs879253729
hgdprs879253729
ensemblrs879253729
geneviewrs879253729
scholarrs879253729
googlers879253729
pharmgkbrs879253729
gwascentralrs879253729
openSNPrs879253729
23andMers879253729
SNPshotrs879253729
SNPdbers879253729
MSV3drs879253729
GWAS Ctlgrs879253729
Max Magnitude0
ClinVar
Risk rs879253729(C;C)
Alt rs879253729(C;C)
Reference Rs879253729(G;G)
Significance Probable-Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28171383C>G
CLNSRC
CLNACC RCV000234793.1,