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rs61754393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs61754393(A;A)
Make rs61754393(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89284853
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754393
dbSNP (classic)rs61754393
ClinGenrs61754393
ebirs61754393
HLIrs61754393
Exacrs61754393
Gnomadrs61754393
Varsomers61754393
LitVarrs61754393
Maprs61754393
PheGenIrs61754393
Biobankrs61754393
1000 genomesrs61754393
hgdprs61754393
ensemblrs61754393
geneviewrs61754393
scholarrs61754393
googlers61754393
pharmgkbrs61754393
gwascentralrs61754393
openSNPrs61754393
23andMers61754393
SNPshotrs61754393
SNPdbers61754393
MSV3drs61754393
GWAS Ctlgrs61754393
Max Magnitude0
OMIM606933
Desc
Variant0012
Relatedalso
ClinVar
Risk rs61754393(A;A) rs61754393(T;T)
Alt rs61754393(A;A) rs61754393(T;T)
Reference Rs61754393(G;G)
Significance Pathogenic
Disease Oculocutaneous albinism type 1 not provided
Variation info
Gene TYR
CLNDBN Oculocutaneous albinism type 1, temperature sensitive not provided
Reversed 0
HGVS NC_000011.9:g.89018021G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003985.2, RCV000085916.1,