rs104894555

Orientation

plus

Stabilized

plus

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

Make rs104894555(A;A)

Make rs104894555(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

14102205

Gene

COX10

is a	snp
is	mentioned by
dbSNP	rs104894555
dbSNP (classic)	rs104894555
ClinGen	rs104894555
ebi	rs104894555
HLI	rs104894555
Exac	rs104894555
Gnomad	rs104894555
Varsome	rs104894555
LitVar	rs104894555
Map	rs104894555
PheGenI	rs104894555
Biobank	rs104894555
1000 genomes	rs104894555
hgdp	rs104894555
ensembl	rs104894555
geneview	rs104894555
scholar	rs104894555
google	rs104894555
pharmgkb	rs104894555
gwascentral	rs104894555
openSNP	rs104894555
23andMe	rs104894555
SNPshot	rs104894555
SNPdbe	rs104894555
MSV3d	rs104894555
GWAS Ctlg	rs104894555

Max Magnitude

0

OMIM	602125
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894555(A;A)
Alt	rs104894555(A;A)
Reference	Rs104894555(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.14005522C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007958.4,