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rs368124046

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368124046(C;T)
Make rs368124046(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position27983340
GeneOCA2
is asnp
is mentioned by
dbSNPrs368124046
ebirs368124046
HLIrs368124046
Exacrs368124046
Varsomers368124046
Maprs368124046
PheGenIrs368124046
hapmaprs368124046
1000 genomesrs368124046
hgdprs368124046
ensemblrs368124046
gopubmedrs368124046
geneviewrs368124046
scholarrs368124046
googlers368124046
pharmgkbrs368124046
gwascentralrs368124046
openSNPrs368124046
23andMers368124046
23andMe allrs368124046
SNP Nexus

SNPshotrs368124046
SNPdbers368124046
MSV3drs368124046
GWAS Ctlgrs368124046
Max Magnitude0
ClinVar
Risk rs368124046(T;T)
Alt rs368124046(T;T)
Reference rs368124046(C;C)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 0
HGVS NC_000015.9:g.28228486C>T
CLNSRC
CLNACC RCV000193557.1,