rs1057516423

Orientation

minus

Stabilized

minus

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

Make rs1057516423(A;T)

Make rs1057516423(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

63072980

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs1057516423
dbSNP (classic)	rs1057516423
ClinGen	rs1057516423
ebi	rs1057516423
HLI	rs1057516423
Exac	rs1057516423
Gnomad	rs1057516423
Varsome	rs1057516423
LitVar	rs1057516423
Map	rs1057516423
PheGenI	rs1057516423
Biobank	rs1057516423
1000 genomes	rs1057516423
hgdp	rs1057516423
ensembl	rs1057516423
geneview	rs1057516423
scholar	rs1057516423
google	rs1057516423
pharmgkb	rs1057516423
gwascentral	rs1057516423
openSNP	rs1057516423
23andMe	rs1057516423
SNPshot	rs1057516423
SNPdbe	rs1057516423
MSV3d	rs1057516423
GWAS Ctlg	rs1057516423

Max Magnitude

0

ClinVar
Risk	rs1057516423(T;T)
Alt	rs1057516423(T;T)
Reference	Rs1057516423(A;A)
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.63985539T>A
CLNSRC
CLNACC	RCV000410232.1,