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rs142931246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142931246(C;C)
Make rs142931246(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position28014795
GeneOCA2
is asnp
is mentioned by
dbSNPrs142931246
dbSNP (classic)rs142931246
ClinGenrs142931246
ebirs142931246
HLIrs142931246
Exacrs142931246
Gnomadrs142931246
Varsomers142931246
LitVarrs142931246
Maprs142931246
PheGenIrs142931246
Biobankrs142931246
1000 genomesrs142931246
hgdprs142931246
ensemblrs142931246
geneviewrs142931246
scholarrs142931246
googlers142931246
pharmgkbrs142931246
gwascentralrs142931246
openSNPrs142931246
23andMers142931246
23andMe allrs142931246
SNPshotrs142931246
SNPdbers142931246
MSV3drs142931246
GWAS Ctlgrs142931246
Max Magnitude0
ClinVar
Risk rs142931246(C;C)
Alt rs142931246(C;C)
Reference Rs142931246(T;T)
Significance Probable-Pathogenic
Disease Albinism
Variation info
Gene OCA2
CLNDBN Albinism
Reversed 0
HGVS NC_000015.9:g.28259941T>C
CLNSRC
CLNACC RCV000415383.1,