rs794726870

Orientation

plus

Stabilized

plus

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

Make rs794726870(C;T)

Make rs794726870(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

197705829

Gene

MARS2

is a	snp
is	mentioned by
dbSNP	rs794726870
dbSNP (classic)	rs794726870
ClinGen	rs794726870
ebi	rs794726870
HLI	rs794726870
Exac	rs794726870
Gnomad	rs794726870
Varsome	rs794726870
LitVar	rs794726870
Map	rs794726870
PheGenI	rs794726870
Biobank	rs794726870
1000 genomes	rs794726870
hgdp	rs794726870
ensembl	rs794726870
geneview	rs794726870
scholar	rs794726870
google	rs794726870
pharmgkb	rs794726870
gwascentral	rs794726870
openSNP	rs794726870
23andMe	rs794726870
SNPshot	rs794726870
SNPdbe	rs794726870
MSV3d	rs794726870
GWAS Ctlg	rs794726870

Max Magnitude

0

ClinVar
Risk	rs794726870(T;T)
Alt	rs794726870(T;T)
Reference	Rs794726870(C;C)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 25
Variation	info
Gene	MARS2
CLNDBN	Combined oxidative phosphorylation deficiency 25
Reversed	0
HGVS	NC_000002.11:g.198570553C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000173046.2,