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rs61753178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61753178(C;T)
Make rs61753178(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178014
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61753178
dbSNP (classic)rs61753178
ClinGenrs61753178
ebirs61753178
HLIrs61753178
Exacrs61753178
Gnomadrs61753178
Varsomers61753178
LitVarrs61753178
Maprs61753178
PheGenIrs61753178
Biobankrs61753178
1000 genomesrs61753178
hgdprs61753178
ensemblrs61753178
geneviewrs61753178
scholarrs61753178
googlers61753178
pharmgkbrs61753178
gwascentralrs61753178
openSNPrs61753178
23andMers61753178
SNPshotrs61753178
SNPdbers61753178
MSV3drs61753178
GWAS Ctlgrs61753178
Max Magnitude0
OMIM606933
Desc
Variant0023
Relatedalso


ClinVar
Risk rs61753178(T;T)
Alt rs61753178(T;T)
Reference Rs61753178(C;C)
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.88911182C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003996.2, RCV000085959.1,