rs397515379

Orientation

minus

Stabilized

minus

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

Make rs397515379(-;TT)

Make rs397515379(TT;TT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63065942

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs397515379
dbSNP (classic)	rs397515379
ClinGen	rs397515379
ebi	rs397515379
HLI	rs397515379
Exac	rs397515379
Gnomad	rs397515379
Varsome	rs397515379
LitVar	rs397515379
Map	rs397515379
PheGenI	rs397515379
Biobank	rs397515379
1000 genomes	rs397515379
hgdp	rs397515379
ensembl	rs397515379
geneview	rs397515379
scholar	rs397515379
google	rs397515379
pharmgkb	rs397515379
gwascentral	rs397515379
openSNP	rs397515379
23andMe	rs397515379
SNPshot	rs397515379
SNPdbe	rs397515379
MSV3d	rs397515379
GWAS Ctlg	rs397515379

Max Magnitude

0

ClinVar
Risk	rs397515379(TT;TT)
Alt	rs397515379(TT;TT)
Reference	Rs397515379(-;-)
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.63978501_63978502insAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009710.2, RCV000055800.2,