rs74315510

Orientation

minus

Stabilized

minus

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

Make rs74315510(C;T)

Make rs74315510(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50524255

Gene	NCAPH2, SCO2

is a	snp
is	mentioned by
dbSNP	rs74315510
dbSNP (classic)	rs74315510
ClinGen	rs74315510
ebi	rs74315510
HLI	rs74315510
Exac	rs74315510
Gnomad	rs74315510
Varsome	rs74315510
LitVar	rs74315510
Map	rs74315510
PheGenI	rs74315510
Biobank	rs74315510
1000 genomes	rs74315510
hgdp	rs74315510
ensembl	rs74315510
geneview	rs74315510
scholar	rs74315510
google	rs74315510
pharmgkb	rs74315510
gwascentral	rs74315510
openSNP	rs74315510
23andMe	rs74315510
SNPshot	rs74315510
SNPdbe	rs74315510
MSV3d	rs74315510
GWAS Ctlg	rs74315510

Max Magnitude

0

OMIM	604272
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315510(T;T)
Alt	rs74315510(T;T)
Reference	Rs74315510(C;C)
Significance	Pathogenic
Disease	Cardioencephalomyopathy Myopia 6
Variation	info
Gene	SCO2 NCAPH2
CLNDBN	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Myopia 6
Reversed	1
HGVS	NC_000022.10:g.50962684G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006032.3, RCV000043618.2,