Have questions? Visit https://www.reddit.com/r/SNPedia

rs367543066

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543066(C;G)
Make rs367543066(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position89178504
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs367543066
dbSNP (classic)rs367543066
ClinGenrs367543066
ebirs367543066
HLIrs367543066
Exacrs367543066
Gnomadrs367543066
Varsomers367543066
LitVarrs367543066
Maprs367543066
PheGenIrs367543066
Biobankrs367543066
1000 genomesrs367543066
hgdprs367543066
ensemblrs367543066
geneviewrs367543066
scholarrs367543066
googlers367543066
pharmgkbrs367543066
gwascentralrs367543066
openSNPrs367543066
23andMers367543066
SNPshotrs367543066
SNPdbers367543066
MSV3drs367543066
GWAS Ctlgrs367543066
Max Magnitude0
ClinVar
Risk rs367543066(G;G) rs367543066(T;T)
Alt rs367543066(G;G) rs367543066(T;T)
Reference Rs367543066(C;C)
Significance Probable-Pathogenic
Disease Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88911672C>G
CLNSRC ClinVar
CLNACC RCV000133602.1,