rs748164236

Merged into

rs397515378

Orientation

plus

Stabilized

plus

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

Make rs748164236(-;-)

Make rs748164236(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

63065969

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs748164236
dbSNP (classic)	rs748164236
ClinGen	rs748164236
ebi	rs748164236
HLI	rs748164236
Exac	rs748164236
Gnomad	rs748164236
Varsome	rs748164236
LitVar	rs748164236
Map	rs748164236
PheGenI	rs748164236
Biobank	rs748164236
1000 genomes	rs748164236
hgdp	rs748164236
ensembl	rs748164236
geneview	rs748164236
scholar	rs748164236
google	rs748164236
pharmgkb	rs748164236
gwascentral	rs748164236
openSNP	rs748164236
23andMe	rs748164236
SNPshot	rs748164236
SNPdbe	rs748164236
MSV3d	rs748164236
GWAS Ctlg	rs748164236

Status

Merged into rs397515378

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs748164236(A;A)
Significance	Other
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	0
HGVS	NC_000008.10:g.63978528delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009709.2, RCV000169325.1,