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rs61754388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61754388(A;A)
Make rs61754388(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position89227904
GeneTYR
is asnp
is mentioned by
dbSNPrs61754388
ebirs61754388
HLIrs61754388
Exacrs61754388
Varsomers61754388
Maprs61754388
PheGenIrs61754388
hapmaprs61754388
1000 genomesrs61754388
hgdprs61754388
ensemblrs61754388
gopubmedrs61754388
geneviewrs61754388
scholarrs61754388
googlers61754388
pharmgkbrs61754388
gwascentralrs61754388
openSNPrs61754388
23andMers61754388
23andMe allrs61754388
SNP Nexus

SNPshotrs61754388
SNPdbers61754388
MSV3drs61754388
GWAS Ctlgrs61754388
Max Magnitude0
OMIM606933
Desc
Variant0003
Relatedalso


ClinVar
Risk rs61754388(A;A)
Alt rs61754388(A;A)
Reference rs61754388(C;C)
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.88961072C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003973.4, RCV000085898.1, RCV000177048.1,