rs28937868

Orientation

minus

Stabilized

minus

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

Make rs28937868(A;A)

Make rs28937868(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50524014

Gene	NCAPH2, SCO2

is a	snp
is	mentioned by
dbSNP	rs28937868
dbSNP (classic)	rs28937868
ClinGen	rs28937868
ebi	rs28937868
HLI	rs28937868
Exac	rs28937868
Gnomad	rs28937868
Varsome	rs28937868
LitVar	rs28937868
Map	rs28937868
PheGenI	rs28937868
Biobank	rs28937868
1000 genomes	rs28937868
hgdp	rs28937868
ensembl	rs28937868
geneview	rs28937868
scholar	rs28937868
google	rs28937868
pharmgkb	rs28937868
gwascentral	rs28937868
openSNP	rs28937868
23andMe	rs28937868
SNPshot	rs28937868
SNPdbe	rs28937868
MSV3d	rs28937868
GWAS Ctlg	rs28937868

Max Magnitude

0

OMIM	604272
Desc	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
Variant	0007
Related	also

ClinVar
Risk	rs28937868(A;A)
Alt	rs28937868(A;A)
Reference	Rs28937868(G;G)
Significance	Pathogenic
Disease	Cardioencephalomyopathy
Variation	info
Gene	NCAPH2 SCO2
CLNDBN	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Reversed	1
HGVS	NC_000022.10:g.50962443C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006038.2,