rs140523

Orientation

minus

Stabilized

minus

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

Make rs140523(C;C)

Make rs140523(C;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50524353

Gene	NCAPH2, SCO2

is a	snp
is	mentioned by
dbSNP	rs140523
dbSNP (classic)	rs140523
ClinGen	rs140523
ebi	rs140523
HLI	rs140523
Exac	rs140523
Gnomad	rs140523
Varsome	rs140523
LitVar	rs140523
Map	rs140523
PheGenI	rs140523
Biobank	rs140523
1000 genomes	rs140523
hgdp	rs140523
ensembl	rs140523
geneview	rs140523
scholar	rs140523
google	rs140523
pharmgkb	rs140523
gwascentral	rs140523
openSNP	rs140523
23andMe	rs140523
SNPshot	rs140523
SNPdbe	rs140523
MSV3d	rs140523
GWAS Ctlg	rs140523

GMAF

0.36

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

ClinVar
Risk	rs140523(A;A) rs140523(C;C) rs140523(T;T)
Alt	rs140523(A;A) rs140523(C;C) rs140523(T;T)
Reference	Rs140523(G;G)
Significance	Non-pathogenic
Disease	not specified Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cytochrome-c oxidase deficiency Fatal Infantile Cardioencephalomyopathy
Variation	info
Gene	SCO2 NCAPH2
CLNDBN	not specified Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cytochrome-c oxidase deficiency Fatal Infantile Cardioencephalomyopathy
Reversed	1
HGVS	NC_000022.10:g.50962782C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000128012.1, RCV000271220.1, RCV000338357.1, RCV000374348.1,