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rs758115945

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758115945(A;A)
Make rs758115945(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position89178614
GeneTYR
is asnp
is mentioned by
dbSNPrs758115945
ebirs758115945
HLIrs758115945
Exacrs758115945
Varsomers758115945
Maprs758115945
PheGenIrs758115945
hapmaprs758115945
1000 genomesrs758115945
hgdprs758115945
ensemblrs758115945
gopubmedrs758115945
geneviewrs758115945
scholarrs758115945
googlers758115945
pharmgkbrs758115945
gwascentralrs758115945
openSNPrs758115945
23andMers758115945
23andMe allrs758115945
SNP Nexus

SNPshotrs758115945
SNPdbers758115945
MSV3drs758115945
GWAS Ctlgrs758115945
Max Magnitude0
ClinVar
Risk rs758115945(A;A)
Alt rs758115945(A;A)
Reference rs758115945(G;G)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88911782G>A
CLNSRC
CLNACC RCV000193793.1,