rs28939711

Orientation

minus

Stabilized

minus

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

Make rs28939711(C;T)

Make rs28939711(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

99724057

Gene

COX15

is a	snp
is	mentioned by
dbSNP	rs28939711
dbSNP (classic)	rs28939711
ClinGen	rs28939711
ebi	rs28939711
HLI	rs28939711
Exac	rs28939711
Gnomad	rs28939711
Varsome	rs28939711
LitVar	rs28939711
Map	rs28939711
PheGenI	rs28939711
Biobank	rs28939711
1000 genomes	rs28939711
hgdp	rs28939711
ensembl	rs28939711
geneview	rs28939711
scholar	rs28939711
google	rs28939711
pharmgkb	rs28939711
gwascentral	rs28939711
openSNP	rs28939711
23andMe	rs28939711
SNPshot	rs28939711
SNPdbe	rs28939711
MSV3d	rs28939711
GWAS Ctlg	rs28939711

Max Magnitude

0

OMIM	603646
Desc	CARDIOMYOPATHY, HYPERTROPHIC, EARLY-ONSET FATAL
Variant	0001
Related	also

ClinVar
Risk	rs28939711(T;T)
Alt	rs28939711(T;T)
Reference	Rs28939711(C;C)
Significance	Pathogenic
Disease	Cardioencephalomyopathy Congenital myasthenic syndrome
Variation	info
Gene	COX15
CLNDBN	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Congenital myasthenic syndrome, acetazolamide-responsive
Reversed	1
HGVS	NC_000010.10:g.101483814G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006551.2, RCV000033252.3,