rs786204758

Orientation

minus

Stabilized

minus

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

Make rs786204758(C;C)

Make rs786204758(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

63086020

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs786204758
dbSNP (classic)	rs786204758
ClinGen	rs786204758
ebi	rs786204758
HLI	rs786204758
Exac	rs786204758
Gnomad	rs786204758
Varsome	rs786204758
LitVar	rs786204758
Map	rs786204758
PheGenI	rs786204758
Biobank	rs786204758
1000 genomes	rs786204758
hgdp	rs786204758
ensembl	rs786204758
geneview	rs786204758
scholar	rs786204758
google	rs786204758
pharmgkb	rs786204758
gwascentral	rs786204758
openSNP	rs786204758
23andMe	rs786204758
SNPshot	rs786204758
SNPdbe	rs786204758
MSV3d	rs786204758
GWAS Ctlg	rs786204758

Max Magnitude

0

ClinVar
Risk	rs786204758(A;A) rs786204758(C;C)
Alt	rs786204758(A;A) rs786204758(C;C)
Reference	Rs786204758(T;T)
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.63998579A>G; NC_000008.10:g.63998579A>T
CLNSRC
CLNACC	RCV000169618.1, RCV000412204.1,