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rs796051880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796051880(C;T)
Make rs796051880(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position89191284
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs796051880
dbSNP (classic)rs796051880
ClinGenrs796051880
ebirs796051880
HLIrs796051880
Exacrs796051880
Gnomadrs796051880
Varsomers796051880
LitVarrs796051880
Maprs796051880
PheGenIrs796051880
Biobankrs796051880
1000 genomesrs796051880
hgdprs796051880
ensemblrs796051880
geneviewrs796051880
scholarrs796051880
googlers796051880
pharmgkbrs796051880
gwascentralrs796051880
openSNPrs796051880
23andMers796051880
SNPshotrs796051880
SNPdbers796051880
MSV3drs796051880
GWAS Ctlgrs796051880
Max Magnitude0
ClinVar
Risk rs796051880(T;T)
Alt rs796051880(T;T)
Reference Rs796051880(C;C)
Significance Probable-Pathogenic
Disease Oculocutaneous albinism type 1
Variation info
Gene TYR
CLNDBN Oculocutaneous albinism type 1
Reversed 0
HGVS NC_000011.9:g.88924452C>T
CLNSRC
CLNACC RCV000186574.1,