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rs104894317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894317(A;A)
Make rs104894317(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89284924
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs104894317
dbSNP (classic)rs104894317
ClinGenrs104894317
ebirs104894317
HLIrs104894317
Exacrs104894317
Gnomadrs104894317
Varsomers104894317
LitVarrs104894317
Maprs104894317
PheGenIrs104894317
Biobankrs104894317
1000 genomesrs104894317
hgdprs104894317
ensemblrs104894317
geneviewrs104894317
scholarrs104894317
googlers104894317
pharmgkbrs104894317
gwascentralrs104894317
openSNPrs104894317
23andMers104894317
SNPshotrs104894317
SNPdbers104894317
MSV3drs104894317
GWAS Ctlgrs104894317
Max Magnitude0
OMIM606933
Desc
Variant0031
Relatedalso
ClinVar
Risk rs104894317(A;A)
Alt rs104894317(A;A)
Reference Rs104894317(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.89018092G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004005.3, RCV000085920.1,