rs1057517448

Orientation

minus

Stabilized

minus

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

Make rs1057517448(-;-)

Make rs1057517448(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

63066015

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs1057517448
dbSNP (classic)	rs1057517448
ClinGen	rs1057517448
ebi	rs1057517448
HLI	rs1057517448
Exac	rs1057517448
Gnomad	rs1057517448
Varsome	rs1057517448
LitVar	rs1057517448
Map	rs1057517448
PheGenI	rs1057517448
Biobank	rs1057517448
1000 genomes	rs1057517448
hgdp	rs1057517448
ensembl	rs1057517448
geneview	rs1057517448
scholar	rs1057517448
google	rs1057517448
pharmgkb	rs1057517448
gwascentral	rs1057517448
openSNP	rs1057517448
23andMe	rs1057517448
SNPshot	rs1057517448
SNPdbe	rs1057517448
MSV3d	rs1057517448
GWAS Ctlg	rs1057517448

Max Magnitude

0

ClinVar
Risk	rs1057517448(-;-)
Alt	rs1057517448(-;-)
Reference	Rs1057517448(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.63978574delT
CLNSRC
CLNACC	RCV000410520.1,