rs28937598

Orientation

minus

Stabilized

minus

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

Make rs28937598(C;T)

Make rs28937598(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50523901

Gene	NCAPH2, SCO2

is a	snp
is	mentioned by
dbSNP	rs28937598
dbSNP (classic)	rs28937598
ClinGen	rs28937598
ebi	rs28937598
HLI	rs28937598
Exac	rs28937598
Gnomad	rs28937598
Varsome	rs28937598
LitVar	rs28937598
Map	rs28937598
PheGenI	rs28937598
Biobank	rs28937598
1000 genomes	rs28937598
hgdp	rs28937598
ensembl	rs28937598
geneview	rs28937598
scholar	rs28937598
google	rs28937598
pharmgkb	rs28937598
gwascentral	rs28937598
openSNP	rs28937598
23andMe	rs28937598
SNPshot	rs28937598
SNPdbe	rs28937598
MSV3d	rs28937598
GWAS Ctlg	rs28937598

Max Magnitude

0

OMIM	604272
Desc	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
Variant	0004
Related	also

ClinVar
Risk	rs28937598(T;T)
Alt	rs28937598(T;T)
Reference	Rs28937598(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.50962330G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006034.3,