rs879255657

Orientation

minus

Stabilized

minus

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

Make rs879255657(C;C)

Make rs879255657(C;G)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

55647421

Gene

PNPT1

is a	snp
is	mentioned by
dbSNP	rs879255657
dbSNP (classic)	rs879255657
ClinGen	rs879255657
ebi	rs879255657
HLI	rs879255657
Exac	rs879255657
Gnomad	rs879255657
Varsome	rs879255657
LitVar	rs879255657
Map	rs879255657
PheGenI	rs879255657
Biobank	rs879255657
1000 genomes	rs879255657
hgdp	rs879255657
ensembl	rs879255657
geneview	rs879255657
scholar	rs879255657
google	rs879255657
pharmgkb	rs879255657
gwascentral	rs879255657
openSNP	rs879255657
23andMe	rs879255657
SNPshot	rs879255657
SNPdbe	rs879255657
MSV3d	rs879255657
GWAS Ctlg	rs879255657

Max Magnitude

0

ClinVar
Risk	rs879255657(C;C)
Alt	rs879255657(C;C)
Reference	Rs879255657(G;G)
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.55874556C>G
CLNSRC
CLNACC	RCV000239707.1,