rs397514598

Orientation

minus

Stabilized

minus

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

Make rs397514598(A;G)

Make rs397514598(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

55667007

Gene

PNPT1

is a	snp
is	mentioned by
dbSNP	rs397514598
dbSNP (classic)	rs397514598
ClinGen	rs397514598
ebi	rs397514598
HLI	rs397514598
Exac	rs397514598
Gnomad	rs397514598
Varsome	rs397514598
LitVar	rs397514598
Map	rs397514598
PheGenI	rs397514598
Biobank	rs397514598
1000 genomes	rs397514598
hgdp	rs397514598
ensembl	rs397514598
geneview	rs397514598
scholar	rs397514598
google	rs397514598
pharmgkb	rs397514598
gwascentral	rs397514598
openSNP	rs397514598
23andMe	rs397514598
SNPshot	rs397514598
SNPdbe	rs397514598
MSV3d	rs397514598
GWAS Ctlg	rs397514598

Max Magnitude

0

ClinVar
Risk	rs397514598(G;G)
Alt	rs397514598(G;G)
Reference	Rs397514598(A;A)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 13
Variation	info
Gene	PNPT1
CLNDBN	Combined oxidative phosphorylation deficiency 13
Reversed	1
HGVS	NC_000002.11:g.55894142T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033022.3,