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rs61754360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61754360(A;A)
Make rs61754360(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178486
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754360
dbSNP (classic)rs61754360
ClinGenrs61754360
ebirs61754360
HLIrs61754360
Exacrs61754360
Gnomadrs61754360
Varsomers61754360
LitVarrs61754360
Maprs61754360
PheGenIrs61754360
Biobankrs61754360
1000 genomesrs61754360
hgdprs61754360
ensemblrs61754360
geneviewrs61754360
scholarrs61754360
googlers61754360
pharmgkbrs61754360
gwascentralrs61754360
openSNPrs61754360
23andMers61754360
SNPshotrs61754360
SNPdbers61754360
MSV3drs61754360
GWAS Ctlgrs61754360
Max Magnitude0
OMIM606933
Desc
Variant0014
Relatedalso


ClinVar
Risk rs61754360(A;A)
Alt rs61754360(A;A)
Reference Rs61754360(G;G)
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.88911654G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003987.2, RCV000085953.1,