rs121917849

Orientation

minus

Stabilized

minus

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

Make rs121917849(G;G)

Make rs121917849(G;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

63072990

Gene

TTPA

is a	snp
is	mentioned by
dbSNP	rs121917849
dbSNP (classic)	rs121917849
ClinGen	rs121917849
ebi	rs121917849
HLI	rs121917849
Exac	rs121917849
Gnomad	rs121917849
Varsome	rs121917849
LitVar	rs121917849
Map	rs121917849
PheGenI	rs121917849
Biobank	rs121917849
1000 genomes	rs121917849
hgdp	rs121917849
ensembl	rs121917849
geneview	rs121917849
scholar	rs121917849
google	rs121917849
pharmgkb	rs121917849
gwascentral	rs121917849
openSNP	rs121917849
23andMe	rs121917849
SNPshot	rs121917849
SNPdbe	rs121917849
MSV3d	rs121917849
GWAS Ctlg	rs121917849

Max Magnitude

0

ClinVar
Risk	rs121917849(G;G)
Alt	rs121917849(G;G)
Reference	Rs121917849(T;T)
Significance	Pathogenic
Disease	Ataxia and retinitis pigmentosa with isolated vitamin e deficiency Ataxia with vitamin E deficiency
Variation	info
Gene	TTPA
CLNDBN	Ataxia and retinitis pigmentosa with isolated vitamin e deficiency Ataxia with vitamin E deficiency
Reversed	1
HGVS	NC_000008.10:g.63985549A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009708.2, RCV000055795.1,