rs104894556

Orientation

plus

Stabilized

plus

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

Make rs104894556(C;T)

Make rs104894556(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

14159926

Gene

COX10

is a	snp
is	mentioned by
dbSNP	rs104894556
dbSNP (classic)	rs104894556
ClinGen	rs104894556
ebi	rs104894556
HLI	rs104894556
Exac	rs104894556
Gnomad	rs104894556
Varsome	rs104894556
LitVar	rs104894556
Map	rs104894556
PheGenI	rs104894556
Biobank	rs104894556
1000 genomes	rs104894556
hgdp	rs104894556
ensembl	rs104894556
geneview	rs104894556
scholar	rs104894556
google	rs104894556
pharmgkb	rs104894556
gwascentral	rs104894556
openSNP	rs104894556
23andMe	rs104894556
SNPshot	rs104894556
SNPdbe	rs104894556
MSV3d	rs104894556
GWAS Ctlg	rs104894556

GMAF

0.0004591

Max Magnitude

0

OMIM	602125
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894556(T;T)
Alt	rs104894556(T;T)
Reference	Rs104894556(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.14063243C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007959.3,