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rs281865522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865522(-;-)
Make rs281865522(-;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89227950
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs281865522
dbSNP (classic)rs281865522
ClinGenrs281865522
ebirs281865522
HLIrs281865522
Exacrs281865522
Gnomadrs281865522
Varsomers281865522
LitVarrs281865522
Maprs281865522
PheGenIrs281865522
Biobankrs281865522
1000 genomesrs281865522
hgdprs281865522
ensemblrs281865522
geneviewrs281865522
scholarrs281865522
googlers281865522
pharmgkbrs281865522
gwascentralrs281865522
openSNPrs281865522
23andMers281865522
SNPshotrs281865522
SNPdbers281865522
MSV3drs281865522
GWAS Ctlgrs281865522
Max Magnitude0
ClinVar
Risk rs281865522(-;-)
Alt rs281865522(-;-)
Reference Rs281865522(T;T)
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.88961118delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004003.2, RCV000085905.1,