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rs61753180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61753180(A;A)
Make rs61753180(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89178093
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61753180
dbSNP (classic)rs61753180
ClinGenrs61753180
ebirs61753180
HLIrs61753180
Exacrs61753180
Gnomadrs61753180
Varsomers61753180
LitVarrs61753180
Maprs61753180
PheGenIrs61753180
Biobankrs61753180
1000 genomesrs61753180
hgdprs61753180
ensemblrs61753180
geneviewrs61753180
scholarrs61753180
googlers61753180
pharmgkbrs61753180
gwascentralrs61753180
openSNPrs61753180
23andMers61753180
SNPshotrs61753180
SNPdbers61753180
MSV3drs61753180
GWAS Ctlgrs61753180
GMAF0.0004591
Max Magnitude0
OMIM606933
Desc
Variant0024
Relatedalso


ClinVar
Risk rs61753180(A;A)
Alt rs61753180(A;A)
Reference Rs61753180(G;G)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided
Reversed 0
HGVS NC_000011.9:g.88911261G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003997.2, RCV000003998.2, RCV000085925.2,