rs397515377

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs397515377(-;-)

Make rs397515377(-;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63061345

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs397515377
dbSNP (classic)	rs397515377
ClinGen	rs397515377
ebi	rs397515377
HLI	rs397515377
Exac	rs397515377
Gnomad	rs397515377
Varsome	rs397515377
LitVar	rs397515377
Map	rs397515377
PheGenI	rs397515377
Biobank	rs397515377
1000 genomes	rs397515377
hgdp	rs397515377
ensembl	rs397515377
geneview	rs397515377
scholar	rs397515377
google	rs397515377
pharmgkb	rs397515377
gwascentral	rs397515377
openSNP	rs397515377
23andMe	rs397515377
SNPshot	rs397515377
SNPdbe	rs397515377
MSV3d	rs397515377
GWAS Ctlg	rs397515377

Max Magnitude

0

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,