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rs776174514

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs776174514(C;C)
Make rs776174514(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position12704589
GeneLURAP1L-AS1, TYRP1
is asnp
is mentioned by
dbSNPrs776174514
ebirs776174514
HLIrs776174514
Exacrs776174514
Varsomers776174514
Maprs776174514
PheGenIrs776174514
hapmaprs776174514
1000 genomesrs776174514
hgdprs776174514
ensemblrs776174514
gopubmedrs776174514
geneviewrs776174514
scholarrs776174514
googlers776174514
pharmgkbrs776174514
gwascentralrs776174514
openSNPrs776174514
23andMers776174514
23andMe allrs776174514
SNP Nexus

SNPshotrs776174514
SNPdbers776174514
MSV3drs776174514
GWAS Ctlgrs776174514
Max Magnitude0
ClinVar
Risk rs776174514(C;C)
Alt rs776174514(C;C)
Reference rs776174514(T;T)
Significance Probable-Pathogenic
Disease Oculocutaneous albinism type 3
Variation info
Gene TYRP1 LURAP1L-AS1
CLNDBN Oculocutaneous albinism type 3
Reversed 0
HGVS NC_000009.11:g.12704589T>C
CLNSRC
CLNACC RCV000192929.1,