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rs387906241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906241(-;-)
Make rs387906241(-;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position27926246
GeneOCA2
is asnp
is mentioned by
dbSNPrs387906241
ebirs387906241
HLIrs387906241
Exacrs387906241
Varsomers387906241
Maprs387906241
PheGenIrs387906241
hapmaprs387906241
1000 genomesrs387906241
hgdprs387906241
ensemblrs387906241
gopubmedrs387906241
geneviewrs387906241
scholarrs387906241
googlers387906241
pharmgkbrs387906241
gwascentralrs387906241
openSNPrs387906241
23andMers387906241
23andMe allrs387906241
SNP Nexus

SNPshotrs387906241
SNPdbers387906241
MSV3drs387906241
GWAS Ctlgrs387906241
Max Magnitude0
ClinVar
Risk rs387906241(;)
Alt rs387906241(;)
Reference rs387906241(G;G)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28171392delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001008.3,