rs146571352

Orientation

plus

Stabilized

plus

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

Make rs146571352(C;T)

Make rs146571352(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

55647424

Gene

PNPT1

is a	snp
is	mentioned by
dbSNP	rs146571352
dbSNP (classic)	rs146571352
ClinGen	rs146571352
ebi	rs146571352
HLI	rs146571352
Exac	rs146571352
Gnomad	rs146571352
Varsome	rs146571352
LitVar	rs146571352
Map	rs146571352
PheGenI	rs146571352
Biobank	rs146571352
1000 genomes	rs146571352
hgdp	rs146571352
ensembl	rs146571352
geneview	rs146571352
scholar	rs146571352
google	rs146571352
pharmgkb	rs146571352
gwascentral	rs146571352
openSNP	rs146571352
23andMe	rs146571352
SNPshot	rs146571352
SNPdbe	rs146571352
MSV3d	rs146571352
GWAS Ctlg	rs146571352

Max Magnitude

0

ClinVar
Risk	rs146571352(T;T)
Alt	rs146571352(T;T)
Reference	Rs146571352(C;C)
Significance	Probable-Pathogenic
Disease	Combined oxidative phosphorylation deficiency 13 not specified
Variation	info
Gene	PNPT1
CLNDBN	Combined oxidative phosphorylation deficiency 13 not specified
Reversed	0
HGVS	NC_000002.11:g.55874559C>T
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191121.1, RCV000196452.3,