Have questions? Visit https://www.reddit.com/r/SNPedia

rs760014795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs760014795(-;-)
Make rs760014795(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position63086003
GeneTTPA
is asnp
is mentioned by
dbSNPrs760014795
dbSNP (classic)rs760014795
ClinGenrs760014795
ebirs760014795
HLIrs760014795
Exacrs760014795
Gnomadrs760014795
Varsomers760014795
LitVarrs760014795
Maprs760014795
PheGenIrs760014795
Biobankrs760014795
1000 genomesrs760014795
hgdprs760014795
ensemblrs760014795
geneviewrs760014795
scholarrs760014795
googlers760014795
pharmgkbrs760014795
gwascentralrs760014795
openSNPrs760014795
23andMers760014795
SNPshotrs760014795
SNPdbers760014795
MSV3drs760014795
GWAS Ctlgrs760014795
Max Magnitude0
ClinVar
Risk rs760014795(-;-)
Alt rs760014795(-;-)
Reference Rs760014795(G;G)
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.63998562delG
CLNSRC
CLNACC RCV000190635.1,