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rs281865328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs281865328(-;C)
Make rs281865328(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position89295277
GeneTYR
is asnp
is mentioned by
dbSNPrs281865328
dbSNP (classic)rs281865328
ClinGenrs281865328
ebirs281865328
HLIrs281865328
Exacrs281865328
Gnomadrs281865328
Varsomers281865328
LitVarrs281865328
Maprs281865328
PheGenIrs281865328
Biobankrs281865328
1000 genomesrs281865328
hgdprs281865328
ensemblrs281865328
geneviewrs281865328
scholarrs281865328
googlers281865328
pharmgkbrs281865328
gwascentralrs281865328
openSNPrs281865328
23andMers281865328
SNPshotrs281865328
SNPdbers281865328
MSV3drs281865328
GWAS Ctlgrs281865328
Max Magnitude0
ClinVar
Risk rs281865328(C;C)
Alt rs281865328(C;C)
Reference Rs281865328(-;-)
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.89028445dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004008.2, RCV000085928.1,