rs74315511

Orientation

minus

Stabilized

minus

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

Make rs74315511(A;A)

Make rs74315511(A;G)

Reference

GRCh38 38.1/142

Chromosome

22

Position

50523994

Gene	NCAPH2, SCO2

is a	snp
is	mentioned by
dbSNP	rs74315511
dbSNP (classic)	rs74315511
ClinGen	rs74315511
ebi	rs74315511
HLI	rs74315511
Exac	rs74315511
Gnomad	rs74315511
Varsome	rs74315511
LitVar	rs74315511
Map	rs74315511
PheGenI	rs74315511
Biobank	rs74315511
1000 genomes	rs74315511
hgdp	rs74315511
ensembl	rs74315511
geneview	rs74315511
scholar	rs74315511
google	rs74315511
pharmgkb	rs74315511
gwascentral	rs74315511
openSNP	rs74315511
23andMe	rs74315511
SNPshot	rs74315511
SNPdbe	rs74315511
MSV3d	rs74315511
GWAS Ctlg	rs74315511

Max Magnitude

0

OMIM	604272
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315511(A;A)
Alt	rs74315511(A;A)
Reference	Rs74315511(G;G)
Significance	Pathogenic
Disease	Cardioencephalomyopathy Myopia 6 not provided
Variation	info
Gene	NCAPH2 SCO2
CLNDBN	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Myopia 6 not provided
Reversed	1
HGVS	NC_000022.10:g.50962423C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006035.3, RCV000043619.2, RCV000198477.2,