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rs61754399

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(I;I) 0
Make rs61754399(-;T)
Make rs61754399(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89295243
GeneTYR
is asnp
is mentioned by
dbSNPrs61754399
dbSNP (classic)rs61754399
ClinGenrs61754399
ebirs61754399
HLIrs61754399
Exacrs61754399
Gnomadrs61754399
Varsomers61754399
LitVarrs61754399
Maprs61754399
PheGenIrs61754399
Biobankrs61754399
1000 genomesrs61754399
hgdprs61754399
ensemblrs61754399
geneviewrs61754399
scholarrs61754399
googlers61754399
pharmgkbrs61754399
gwascentralrs61754399
openSNPrs61754399
23andMers61754399
SNPshotrs61754399
SNPdbers61754399
MSV3drs61754399
GWAS Ctlgrs61754399
Max Magnitude0
ClinVar
Risk rs61754399(T;T)
Alt rs61754399(T;T)
Reference Rs61754399(-;-)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism not provided Oculocutaneous albinism type 1B
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism not provided Oculocutaneous albinism type 1B
Reversed 0
HGVS NC_000011.9:g.89028411dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004007.3, RCV000085926.1, RCV000372748.1,