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rs61754380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61754380(C;C)
Make rs61754380(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position89191364
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs61754380
dbSNP (classic)rs61754380
ClinGenrs61754380
ebirs61754380
HLIrs61754380
Exacrs61754380
Gnomadrs61754380
Varsomers61754380
LitVarrs61754380
Maprs61754380
PheGenIrs61754380
Biobankrs61754380
1000 genomesrs61754380
hgdprs61754380
ensemblrs61754380
geneviewrs61754380
scholarrs61754380
googlers61754380
pharmgkbrs61754380
gwascentralrs61754380
openSNPrs61754380
23andMers61754380
SNPshotrs61754380
SNPdbers61754380
MSV3drs61754380
GWAS Ctlgrs61754380
Max Magnitude0
ClinVar
Risk rs61754380(A;A) rs61754380(C;C)
Alt rs61754380(A;A) rs61754380(C;C)
Reference Rs61754380(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.88924532G>A; NC_000011.9:g.88924532G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000193486.1, RCV000085984.1,