rs397515524

Orientation

minus

Stabilized

minus

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

Make rs397515524(A;A)

Make rs397515524(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63066035

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs397515524
dbSNP (classic)	rs397515524
ClinGen	rs397515524
ebi	rs397515524
HLI	rs397515524
Exac	rs397515524
Gnomad	rs397515524
Varsome	rs397515524
LitVar	rs397515524
Map	rs397515524
PheGenI	rs397515524
Biobank	rs397515524
1000 genomes	rs397515524
hgdp	rs397515524
ensembl	rs397515524
geneview	rs397515524
scholar	rs397515524
google	rs397515524
pharmgkb	rs397515524
gwascentral	rs397515524
openSNP	rs397515524
23andMe	rs397515524
SNPshot	rs397515524
SNPdbe	rs397515524
MSV3d	rs397515524
GWAS Ctlg	rs397515524

Max Magnitude

0

ClinVar
Risk	rs397515524(A;A)
Alt	rs397515524(A;A)
Reference	Rs397515524(G;G)
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.63978594C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055798.1,