Have questions? Visit https://www.reddit.com/r/SNPedia

rs61754387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61754387(A;C)
Make rs61754387(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position89227898
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754387
dbSNP (classic)rs61754387
ClinGenrs61754387
ebirs61754387
HLIrs61754387
Exacrs61754387
Gnomadrs61754387
Varsomers61754387
LitVarrs61754387
Maprs61754387
PheGenIrs61754387
Biobankrs61754387
1000 genomesrs61754387
hgdprs61754387
ensemblrs61754387
geneviewrs61754387
scholarrs61754387
googlers61754387
pharmgkbrs61754387
gwascentralrs61754387
openSNPrs61754387
23andMers61754387
SNPshotrs61754387
SNPdbers61754387
MSV3drs61754387
GWAS Ctlgrs61754387
Max Magnitude0
OMIM606933
Desc
Variant0028
Relatedalso


ClinVar
Risk rs61754387(C;C)
Alt rs61754387(C;C)
Reference Rs61754387(A;A)
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.88961066A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004002.2, RCV000085897.1,