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rs797046083

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797046083(C;T)
Make rs797046083(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position89178611
GeneTYR
is asnp
is mentioned by
dbSNPrs797046083
ebirs797046083
HLIrs797046083
Exacrs797046083
Varsomers797046083
Maprs797046083
PheGenIrs797046083
hapmaprs797046083
1000 genomesrs797046083
hgdprs797046083
ensemblrs797046083
gopubmedrs797046083
geneviewrs797046083
scholarrs797046083
googlers797046083
pharmgkbrs797046083
gwascentralrs797046083
openSNPrs797046083
23andMers797046083
23andMe allrs797046083
SNP Nexus

SNPshotrs797046083
SNPdbers797046083
MSV3drs797046083
GWAS Ctlgrs797046083
Max Magnitude0
ClinVar
Risk rs797046083(T;T)
Alt rs797046083(T;T)
Reference rs797046083(C;C)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88911779C>T
CLNSRC
CLNACC RCV000192311.1,