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rs137854890

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854890(A;A)
Make rs137854890(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178225
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs137854890
dbSNP (classic)rs137854890
ClinGenrs137854890
ebirs137854890
HLIrs137854890
Exacrs137854890
Gnomadrs137854890
Varsomers137854890
LitVarrs137854890
Maprs137854890
PheGenIrs137854890
Biobankrs137854890
1000 genomesrs137854890
hgdprs137854890
ensemblrs137854890
geneviewrs137854890
scholarrs137854890
googlers137854890
pharmgkbrs137854890
gwascentralrs137854890
openSNPrs137854890
23andMers137854890
SNPshotrs137854890
SNPdbers137854890
MSV3drs137854890
GWAS Ctlgrs137854890
Max Magnitude0
ClinVar
Risk rs137854890(A;A)
Alt rs137854890(A;A)
Reference Rs137854890(G;G)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88911393G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033111.2,