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rs397515377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515377(-;-)
Make rs397515377(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position63061345
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515377
ebirs397515377
HLIrs397515377
Exacrs397515377
Varsomers397515377
Maprs397515377
PheGenIrs397515377
hapmaprs397515377
1000 genomesrs397515377
hgdprs397515377
ensemblrs397515377
gopubmedrs397515377
geneviewrs397515377
scholarrs397515377
googlers397515377
pharmgkbrs397515377
gwascentralrs397515377
openSNPrs397515377
23andMers397515377
23andMe allrs397515377
SNP Nexus

SNPshotrs397515377
SNPdbers397515377
MSV3drs397515377
GWAS Ctlgrs397515377
Max Magnitude0
ClinVar
Risk rs397515377(;)
Alt rs397515377(;)
Reference rs397515377(A;A)
Significance Pathogenic
Disease Ataxia Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia, Friedreich-like, with isolated vitamin E deficiency Ataxia with vitamin E deficiency
Reversed 1
HGVS NC_000008.10:g.63973904delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009707.2, RCV000055806.1,