rs397515523

Orientation

minus

Stabilized

minus

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

Make rs397515523(A;G)

Make rs397515523(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63085831

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs397515523
dbSNP (classic)	rs397515523
ClinGen	rs397515523
ebi	rs397515523
HLI	rs397515523
Exac	rs397515523
Gnomad	rs397515523
Varsome	rs397515523
LitVar	rs397515523
Map	rs397515523
PheGenI	rs397515523
Biobank	rs397515523
1000 genomes	rs397515523
hgdp	rs397515523
ensembl	rs397515523
geneview	rs397515523
scholar	rs397515523
google	rs397515523
pharmgkb	rs397515523
gwascentral	rs397515523
openSNP	rs397515523
23andMe	rs397515523
SNPshot	rs397515523
SNPdbe	rs397515523
MSV3d	rs397515523
GWAS Ctlg	rs397515523

Max Magnitude

0

ClinVar
Risk	rs397515523(G;G)
Alt	rs397515523(G;G)
Reference	Rs397515523(A;A)
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.63998390T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055794.1,