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rs61754367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61754367(A;A)
Make rs61754367(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178660
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754367
dbSNP (classic)rs61754367
ClinGenrs61754367
ebirs61754367
HLIrs61754367
Exacrs61754367
Gnomadrs61754367
Varsomers61754367
LitVarrs61754367
Maprs61754367
PheGenIrs61754367
Biobankrs61754367
1000 genomesrs61754367
hgdprs61754367
ensemblrs61754367
geneviewrs61754367
scholarrs61754367
googlers61754367
pharmgkbrs61754367
gwascentralrs61754367
openSNPrs61754367
23andMers61754367
SNPshotrs61754367
SNPdbers61754367
MSV3drs61754367
GWAS Ctlgrs61754367
Max Magnitude0
OMIM606933
Desc
Variant0035
Relatedalso


ClinVar
Risk rs61754367(A;A) rs61754367(C;C)
Alt rs61754367(A;A) rs61754367(C;C)
Reference Rs61754367(G;G)
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.88911828G>A; NC_000011.9:g.88911828G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004009.2, RCV000085966.1, RCV000085967.1,