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

rs1008240677

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position63086009
GeneTTPA
is asnp
is mentioned by
dbSNPrs1008240677
dbSNP (old)rs1008240677
ClinGenrs1008240677
ebirs1008240677
HLIrs1008240677
Exacrs1008240677
Gnomadrs1008240677
Varsomers1008240677
Maprs1008240677
PheGenIrs1008240677
Biobankrs1008240677
1000 genomesrs1008240677
hgdprs1008240677
ensemblrs1008240677
gopubmedrs1008240677
geneviewrs1008240677
scholarrs1008240677
googlers1008240677
pharmgkbrs1008240677
gwascentralrs1008240677
openSNPrs1008240677
23andMers1008240677
23andMe allrs1008240677
SNPshotrs1008240677
SNPdbers1008240677
MSV3drs1008240677
GWAS Ctlgrs1008240677
Max Magnitude0
ClinVar
Risk rs1008240677(A;A)
Alt rs1008240677(A;A)
Reference Rs1008240677(G;G)
Significance Probable-Pathogenic
Disease Ataxia with vitamin E deficiency
Variation info
Gene
CLNDBN Ataxia with vitamin E deficiency
Reversed 0
HGVS NC_000008.10:g.63998568G>A
CLNSRC
CLNACC RCV000410811.1,