rs778100619

Orientation

plus

Stabilized

plus

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

Make rs778100619(A;A)

Make rs778100619(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

55672999

Gene

PNPT1

is a	snp
is	mentioned by
dbSNP	rs778100619
dbSNP (classic)	rs778100619
ClinGen	rs778100619
ebi	rs778100619
HLI	rs778100619
Exac	rs778100619
Gnomad	rs778100619
Varsome	rs778100619
LitVar	rs778100619
Map	rs778100619
PheGenI	rs778100619
Biobank	rs778100619
1000 genomes	rs778100619
hgdp	rs778100619
ensembl	rs778100619
geneview	rs778100619
scholar	rs778100619
google	rs778100619
pharmgkb	rs778100619
gwascentral	rs778100619
openSNP	rs778100619
23andMe	rs778100619
SNPshot	rs778100619
SNPdbe	rs778100619
MSV3d	rs778100619
GWAS Ctlg	rs778100619

Max Magnitude

0

ClinVar
Risk	rs778100619(A;A) rs778100619(T;T)
Alt	rs778100619(A;A) rs778100619(T;T)
Reference	Rs778100619(G;G)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 13
Variation	info
Gene	PNPT1
CLNDBN	Combined oxidative phosphorylation deficiency 13
Reversed	0
HGVS	NC_000002.11:g.55900134G>T
CLNSRC
CLNACC	RCV000239625.1,