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rs121917849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917849(G;G)
Make rs121917849(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position63072990
GeneTTPA
is asnp
is mentioned by
dbSNPrs121917849
ebirs121917849
HLIrs121917849
Exacrs121917849
Varsomers121917849
Maprs121917849
PheGenIrs121917849
hapmaprs121917849
1000 genomesrs121917849
hgdprs121917849
ensemblrs121917849
gopubmedrs121917849
geneviewrs121917849
scholarrs121917849
googlers121917849
pharmgkbrs121917849
gwascentralrs121917849
openSNPrs121917849
23andMers121917849
23andMe allrs121917849
SNP Nexus

SNPshotrs121917849
SNPdbers121917849
MSV3drs121917849
GWAS Ctlgrs121917849
Max Magnitude0
ClinVar
Risk rs121917849(G;G)
Alt rs121917849(G;G)
Reference rs121917849(T;T)
Significance Pathogenic
Disease Ataxia and retinitis pigmentosa with isolated vitamin e deficiency Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia and retinitis pigmentosa with isolated vitamin e deficiency Ataxia with vitamin E deficiency
Reversed 1
HGVS NC_000008.10:g.63985549A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009708.2, RCV000055795.1,