rs374698153

Orientation

plus

Stabilized

plus

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

Make rs374698153(C;C)

Make rs374698153(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

55647357

Gene

PNPT1

is a	snp
is	mentioned by
dbSNP	rs374698153
dbSNP (classic)	rs374698153
ClinGen	rs374698153
ebi	rs374698153
HLI	rs374698153
Exac	rs374698153
Gnomad	rs374698153
Varsome	rs374698153
LitVar	rs374698153
Map	rs374698153
PheGenI	rs374698153
Biobank	rs374698153
1000 genomes	rs374698153
hgdp	rs374698153
ensembl	rs374698153
geneview	rs374698153
scholar	rs374698153
google	rs374698153
pharmgkb	rs374698153
gwascentral	rs374698153
openSNP	rs374698153
23andMe	rs374698153
SNPshot	rs374698153
SNPdbe	rs374698153
MSV3d	rs374698153
GWAS Ctlg	rs374698153

Max Magnitude

0

ClinVar
Risk	rs374698153(C;C)
Alt	rs374698153(C;C)
Reference	Rs374698153(G;G)
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.55874492G>C
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191120.1, RCV000414380.1,