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rs61753185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61753185(A;A)
Make rs61753185(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178183
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61753185
dbSNP (classic)rs61753185
ClinGenrs61753185
ebirs61753185
HLIrs61753185
Exacrs61753185
Gnomadrs61753185
Varsomers61753185
LitVarrs61753185
Maprs61753185
PheGenIrs61753185
Biobankrs61753185
1000 genomesrs61753185
hgdprs61753185
ensemblrs61753185
geneviewrs61753185
scholarrs61753185
googlers61753185
pharmgkbrs61753185
gwascentralrs61753185
openSNPrs61753185
23andMers61753185
SNPshotrs61753185
SNPdbers61753185
MSV3drs61753185
GWAS Ctlgrs61753185
GMAF0.0004591
Max Magnitude0
OMIM606933
Desc
Variant0005
Relatedalso
OMIM606933
Desc
Variant0010
Relatedalso


ClinVar
Risk rs61753185(A;A)
Alt rs61753185(A;A)
Reference Rs61753185(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.88911351G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003975.2, RCV000085934.1,