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rs104894318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894318(A;A)
Make rs104894318(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89284930
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs104894318
dbSNP (classic)rs104894318
ClinGenrs104894318
ebirs104894318
HLIrs104894318
Exacrs104894318
Gnomadrs104894318
Varsomers104894318
LitVarrs104894318
Maprs104894318
PheGenIrs104894318
Biobankrs104894318
1000 genomesrs104894318
hgdprs104894318
ensemblrs104894318
geneviewrs104894318
scholarrs104894318
googlers104894318
pharmgkbrs104894318
gwascentralrs104894318
openSNPrs104894318
23andMers104894318
SNPshotrs104894318
SNPdbers104894318
MSV3drs104894318
GWAS Ctlgrs104894318
Max Magnitude0
OMIM606933
Desc
Variant0032
Relatedalso
ClinVar
Risk rs104894318(A;A) rs104894318(C;C)
Alt rs104894318(A;A) rs104894318(C;C)
Reference Rs104894318(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.89018098G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004006.2, RCV000085921.1,