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rs63159160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63159160(C;T)
Make rs63159160(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178602
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs63159160
dbSNP (classic)rs63159160
ClinGenrs63159160
ebirs63159160
HLIrs63159160
Exacrs63159160
Gnomadrs63159160
Varsomers63159160
LitVarrs63159160
Maprs63159160
PheGenIrs63159160
Biobankrs63159160
1000 genomesrs63159160
hgdprs63159160
ensemblrs63159160
geneviewrs63159160
scholarrs63159160
googlers63159160
pharmgkbrs63159160
gwascentralrs63159160
openSNPrs63159160
23andMers63159160
SNPshotrs63159160
SNPdbers63159160
MSV3drs63159160
GWAS Ctlgrs63159160
Max Magnitude0
OMIM606933
Desc
Variant0025
Relatedalso
ClinVar
Risk rs63159160(G;G) rs63159160(T;T)
Alt rs63159160(G;G) rs63159160(T;T)
Reference Rs63159160(C;C)
Significance Pathogenic
Disease not provided Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN not provided Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88911770C>G; NC_000011.9:g.88911770C>T
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000085961.1, RCV000003999.2, RCV000085962.1,