rs121917850

Orientation

minus

Stabilized

minus

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

Make rs121917850(A;A)

Make rs121917850(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63064294

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs121917850
dbSNP (classic)	rs121917850
ClinGen	rs121917850
ebi	rs121917850
HLI	rs121917850
Exac	rs121917850
Gnomad	rs121917850
Varsome	rs121917850
LitVar	rs121917850
Map	rs121917850
PheGenI	rs121917850
Biobank	rs121917850
1000 genomes	rs121917850
hgdp	rs121917850
ensembl	rs121917850
geneview	rs121917850
scholar	rs121917850
google	rs121917850
pharmgkb	rs121917850
gwascentral	rs121917850
openSNP	rs121917850
23andMe	rs121917850
SNPshot	rs121917850
SNPdbe	rs121917850
MSV3d	rs121917850
GWAS Ctlg	rs121917850

Merged from

Rs28936369

Max Magnitude

0

ClinVar
Risk	rs121917850(A;A)
Alt	rs121917850(A;A)
Reference	Rs121917850(G;G)
Significance	Pathogenic
Disease	Ataxia Ataxia with vitamin E deficiency
Variation	info
Gene	TTPA
CLNDBN	Ataxia, Friedreich-like, with isolated vitamin E deficiency Ataxia with vitamin E deficiency
Reversed	1
HGVS	NC_000008.10:g.63976853C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009711.5, RCV000055803.1,