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rs61754363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61754363(A;A)
Make rs61754363(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178599
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754363
dbSNP (classic)rs61754363
ClinGenrs61754363
ebirs61754363
HLIrs61754363
Exacrs61754363
Gnomadrs61754363
Varsomers61754363
LitVarrs61754363
Maprs61754363
PheGenIrs61754363
Biobankrs61754363
1000 genomesrs61754363
hgdprs61754363
ensemblrs61754363
geneviewrs61754363
scholarrs61754363
googlers61754363
pharmgkbrs61754363
gwascentralrs61754363
openSNPrs61754363
23andMers61754363
SNPshotrs61754363
SNPdbers61754363
MSV3drs61754363
GWAS Ctlgrs61754363
Max Magnitude0
OMIM606933
Desc
Variant0036
Relatedalso


ClinVar
Risk rs61754363(A;A) rs61754363(C;C)
Alt rs61754363(A;A) rs61754363(C;C)
Reference Rs61754363(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.88911767T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004010.2, RCV000085960.1,