rs74315512

Orientation

minus

Stabilized

minus

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

Make rs74315512(C;T)

Make rs74315512(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50524144

Gene	NCAPH2, SCO2

is a	snp
is	mentioned by
dbSNP	rs74315512
dbSNP (classic)	rs74315512
ClinGen	rs74315512
ebi	rs74315512
HLI	rs74315512
Exac	rs74315512
Gnomad	rs74315512
Varsome	rs74315512
LitVar	rs74315512
Map	rs74315512
PheGenI	rs74315512
Biobank	rs74315512
1000 genomes	rs74315512
hgdp	rs74315512
ensembl	rs74315512
geneview	rs74315512
scholar	rs74315512
google	rs74315512
pharmgkb	rs74315512
gwascentral	rs74315512
openSNP	rs74315512
23andMe	rs74315512
SNPshot	rs74315512
SNPdbe	rs74315512
MSV3d	rs74315512
GWAS Ctlg	rs74315512

Max Magnitude

0

OMIM	604272
Desc
Variant	0005
Related	also

ClinVar
Risk	rs74315512(T;T)
Alt	rs74315512(T;T)
Reference	Rs74315512(C;C)
Significance	Pathogenic
Disease	Cardioencephalomyopathy
Variation	info
Gene	SCO2 NCAPH2
CLNDBN	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Reversed	1
HGVS	NC_000022.10:g.50962573G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006036.3,