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rs104894315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894315(A;A)
Make rs104894315(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position89227932
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs104894315
dbSNP (classic)rs104894315
ClinGenrs104894315
ebirs104894315
HLIrs104894315
Exacrs104894315
Gnomadrs104894315
Varsomers104894315
LitVarrs104894315
Maprs104894315
PheGenIrs104894315
Biobankrs104894315
1000 genomesrs104894315
hgdprs104894315
ensemblrs104894315
geneviewrs104894315
scholarrs104894315
googlers104894315
pharmgkbrs104894315
gwascentralrs104894315
openSNPrs104894315
23andMers104894315
SNPshotrs104894315
SNPdbers104894315
MSV3drs104894315
GWAS Ctlgrs104894315
Max Magnitude0
OMIM606933
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894315(A;A) rs104894315(T;T)
Alt rs104894315(A;A) rs104894315(T;T)
Reference Rs104894315(C;C)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism not provided
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism not provided
Reversed 0
HGVS NC_000011.9:g.88961100C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003989.2, RCV000085902.1,