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rs143010236

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143010236(C;T)
Make rs143010236(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position63072935
GeneTTPA
is asnp
is mentioned by
dbSNPrs143010236
ebirs143010236
HLIrs143010236
Exacrs143010236
Varsomers143010236
Maprs143010236
PheGenIrs143010236
hapmaprs143010236
1000 genomesrs143010236
hgdprs143010236
ensemblrs143010236
gopubmedrs143010236
geneviewrs143010236
scholarrs143010236
googlers143010236
pharmgkbrs143010236
gwascentralrs143010236
openSNPrs143010236
23andMers143010236
23andMe allrs143010236
SNP Nexus

SNPshotrs143010236
SNPdbers143010236
MSV3drs143010236
GWAS Ctlgrs143010236
Max Magnitude0
ClinVar
Risk rs143010236(T;T)
Alt rs143010236(T;T)
Reference rs143010236(C;C)
Significance Pathogenic
Disease Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia with vitamin E deficiency
Reversed 0
HGVS NC_000008.10:g.63985494C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055796.1,