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rs104894316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894316(G;T)
Make rs104894316(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89284797
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs104894316
dbSNP (classic)rs104894316
ClinGenrs104894316
ebirs104894316
HLIrs104894316
Exacrs104894316
Gnomadrs104894316
Varsomers104894316
LitVarrs104894316
Maprs104894316
PheGenIrs104894316
Biobankrs104894316
1000 genomesrs104894316
hgdprs104894316
ensemblrs104894316
geneviewrs104894316
scholarrs104894316
googlers104894316
pharmgkbrs104894316
gwascentralrs104894316
openSNPrs104894316
23andMers104894316
SNPshotrs104894316
SNPdbers104894316
MSV3drs104894316
GWAS Ctlgrs104894316
Max Magnitude0
OMIM606933
Desc
Variant0030
Relatedalso
ClinVar
Risk rs104894316(T;T)
Alt rs104894316(T;T)
Reference Rs104894316(G;G)
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.89017965G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004004.2, RCV000085911.1,