rs104894560

Orientation

plus

Stabilized

plus

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

Make rs104894560(A;A)

Make rs104894560(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

14102230

Gene

COX10

is a	snp
is	mentioned by
dbSNP	rs104894560
dbSNP (classic)	rs104894560
ClinGen	rs104894560
ebi	rs104894560
HLI	rs104894560
Exac	rs104894560
Gnomad	rs104894560
Varsome	rs104894560
LitVar	rs104894560
Map	rs104894560
PheGenI	rs104894560
Biobank	rs104894560
1000 genomes	rs104894560
hgdp	rs104894560
ensembl	rs104894560
geneview	rs104894560
scholar	rs104894560
google	rs104894560
pharmgkb	rs104894560
gwascentral	rs104894560
openSNP	rs104894560
23andMe	rs104894560
SNPshot	rs104894560
SNPdbe	rs104894560
MSV3d	rs104894560
GWAS Ctlg	rs104894560

Max Magnitude

0

OMIM	602125
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894560(A;A)
Alt	rs104894560(A;A)
Reference	Rs104894560(C;C)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	COX10
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_000017.10:g.14005547C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007956.3,