rs397515522

Orientation

minus

Stabilized

minus

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

Make rs397515522(C;T)

Make rs397515522(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63085847

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs397515522
dbSNP (classic)	rs397515522
ClinGen	rs397515522
ebi	rs397515522
HLI	rs397515522
Exac	rs397515522
Gnomad	rs397515522
Varsome	rs397515522
LitVar	rs397515522
Map	rs397515522
PheGenI	rs397515522
Biobank	rs397515522
1000 genomes	rs397515522
hgdp	rs397515522
ensembl	rs397515522
geneview	rs397515522
scholar	rs397515522
google	rs397515522
pharmgkb	rs397515522
gwascentral	rs397515522
openSNP	rs397515522
23andMe	rs397515522
SNPshot	rs397515522
SNPdbe	rs397515522
MSV3d	rs397515522
GWAS Ctlg	rs397515522

Max Magnitude

0

ClinVar
Risk	rs397515522(T;T)
Alt	rs397515522(T;T)
Reference	Rs397515522(C;C)
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.63998406G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055793.1,