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rs104894313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894313(C;T)
Make rs104894313(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89284805
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs104894313
dbSNP (classic)rs104894313
ClinGenrs104894313
ebirs104894313
HLIrs104894313
Exacrs104894313
Gnomadrs104894313
Varsomers104894313
LitVarrs104894313
Maprs104894313
PheGenIrs104894313
Biobankrs104894313
1000 genomesrs104894313
hgdprs104894313
ensemblrs104894313
geneviewrs104894313
scholarrs104894313
googlers104894313
pharmgkbrs104894313
gwascentralrs104894313
openSNPrs104894313
23andMers104894313
SNPshotrs104894313
SNPdbers104894313
MSV3drs104894313
GWAS Ctlgrs104894313
Max Magnitude0
OMIM606933
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894313(T;T)
Alt rs104894313(T;T)
Reference Rs104894313(C;C)
Significance Pathogenic
Disease Oculocutaneous albinism type 1B not provided Oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Oculocutaneous albinism type 1B not provided Oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.89017973C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003976.2, RCV000085913.1, RCV000400442.1,