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rs121912778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912778(C;T)
Make rs121912778(T;T)
ReferenceGRCh37.p5 37.3/135
Chromosome9
Position12704564
GeneTYRP1
is asnp
is mentioned by
dbSNPrs121912778
ebirs121912778
HLIrs121912778
Exacrs121912778
Varsomers121912778
Maprs121912778
PheGenIrs121912778
hapmaprs121912778
1000 genomesrs121912778
hgdprs121912778
ensemblrs121912778
gopubmedrs121912778
geneviewrs121912778
scholarrs121912778
googlers121912778
pharmgkbrs121912778
gwascentralrs121912778
openSNPrs121912778
23andMers121912778
23andMe allrs121912778
SNP Nexus

SNPshotrs121912778
SNPdbers121912778
MSV3drs121912778
GWAS Ctlgrs121912778
Max Magnitude0
OMIM115501
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912778(T;T)
Alt rs121912778(T;T)
Reference rs121912778(C;C)
Significance Pathogenic
Disease Oculocutaneous albinism type 3
Variation info
Gene TYRP1 LURAP1L-AS1
CLNDBN Oculocutaneous albinism type 3
Reversed 0
HGVS NC_000009.11:g.12704564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019161.28,