rs1057516391

Orientation

minus

Stabilized

minus

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

Make rs1057516391(C;T)

Make rs1057516391(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

63086009

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs1057516391
dbSNP (classic)	rs1057516391
ClinGen	rs1057516391
ebi	rs1057516391
HLI	rs1057516391
Exac	rs1057516391
Gnomad	rs1057516391
Varsome	rs1057516391
LitVar	rs1057516391
Map	rs1057516391
PheGenI	rs1057516391
Biobank	rs1057516391
1000 genomes	rs1057516391
hgdp	rs1057516391
ensembl	rs1057516391
geneview	rs1057516391
scholar	rs1057516391
google	rs1057516391
pharmgkb	rs1057516391
gwascentral	rs1057516391
openSNP	rs1057516391
23andMe	rs1057516391
SNPshot	rs1057516391
SNPdbe	rs1057516391
MSV3d	rs1057516391
GWAS Ctlg	rs1057516391

Max Magnitude

0

ClinVar
Risk	rs1057516391(T;T)
Alt	rs1057516391(T;T)
Reference	Rs1057516391(C;C)
Significance	Probable-Pathogenic
Disease	Ataxia with vitamin E deficiency
Variation	info
Gene	TTPA
CLNDBN	Ataxia with vitamin E deficiency
Reversed	1
HGVS	NC_000008.10:g.63998568G>A
CLNSRC
CLNACC	RCV000410811.1,