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rs61754375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61754375(A;A)
Make rs61754375(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position89191278
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754375
dbSNP (classic)rs61754375
ClinGenrs61754375
ebirs61754375
HLIrs61754375
Exacrs61754375
Gnomadrs61754375
Varsomers61754375
LitVarrs61754375
Maprs61754375
PheGenIrs61754375
Biobankrs61754375
1000 genomesrs61754375
hgdprs61754375
ensemblrs61754375
geneviewrs61754375
scholarrs61754375
googlers61754375
pharmgkbrs61754375
gwascentralrs61754375
openSNPrs61754375
23andMers61754375
SNPshotrs61754375
SNPdbers61754375
MSV3drs61754375
GWAS Ctlgrs61754375
GMAF0.0004591
Max Magnitude0
OMIM606933
Desc
Variant0026
Relatedalso


ClinVar
Risk rs61754375(A;A)
Alt rs61754375(A;A)
Reference Rs61754375(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.88924446G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004000.3, RCV000085979.1,