rs397515525

Orientation

minus

Stabilized

minus

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

Make rs397515525(C;C)

Make rs397515525(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63065908

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs397515525
dbSNP (classic)	rs397515525
ClinGen	rs397515525
ebi	rs397515525
HLI	rs397515525
Exac	rs397515525
Gnomad	rs397515525
Varsome	rs397515525
LitVar	rs397515525
Map	rs397515525
PheGenI	rs397515525
Biobank	rs397515525
1000 genomes	rs397515525
hgdp	rs397515525
ensembl	rs397515525
geneview	rs397515525
scholar	rs397515525
google	rs397515525
pharmgkb	rs397515525
gwascentral	rs397515525
openSNP	rs397515525
23andMe	rs397515525
SNPshot	rs397515525
SNPdbe	rs397515525
MSV3d	rs397515525
GWAS Ctlg	rs397515525

Max Magnitude

0

ClinVar
Risk	rs397515525(C;C)
Alt	rs397515525(C;C)
Reference	Rs397515525(T;T)
Significance	Pathogenic
Disease	Ataxia with vitamin E deficiency
Variation	info
Gene	TTPA
CLNDBN	Ataxia with vitamin E deficiency
Reversed	1
HGVS	NC_000008.10:g.63978467A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055802.1,