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rs61754381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61754381(A;A)
Make rs61754381(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position89227816
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754381
dbSNP (classic)rs61754381
ClinGenrs61754381
ebirs61754381
HLIrs61754381
Exacrs61754381
Gnomadrs61754381
Varsomers61754381
LitVarrs61754381
Maprs61754381
PheGenIrs61754381
Biobankrs61754381
1000 genomesrs61754381
hgdprs61754381
ensemblrs61754381
geneviewrs61754381
scholarrs61754381
googlers61754381
pharmgkbrs61754381
gwascentralrs61754381
openSNPrs61754381
23andMers61754381
SNPshotrs61754381
SNPdbers61754381
MSV3drs61754381
GWAS Ctlgrs61754381
Max Magnitude0
ClinVar
Risk rs61754381(A;A) rs61754381(C;C)
Alt rs61754381(A;A) rs61754381(C;C)
Reference Rs61754381(T;T)
Significance Pathogenic
Disease not provided Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism
Variation info
Gene TYR
CLNDBN not provided Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.88960984T>A
CLNSRC
CLNACC RCV000085889.2, RCV000177049.2, RCV000177050.3, RCV000287375.1,