rs104894630

Orientation

minus

Stabilized

minus

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

Make rs104894630(C;T)

Make rs104894630(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

10692805

Gene

SCO1

is a	snp
is	mentioned by
dbSNP	rs104894630
dbSNP (classic)	rs104894630
ClinGen	rs104894630
ebi	rs104894630
HLI	rs104894630
Exac	rs104894630
Gnomad	rs104894630
Varsome	rs104894630
LitVar	rs104894630
Map	rs104894630
PheGenI	rs104894630
Biobank	rs104894630
1000 genomes	rs104894630
hgdp	rs104894630
ensembl	rs104894630
geneview	rs104894630
scholar	rs104894630
google	rs104894630
pharmgkb	rs104894630
gwascentral	rs104894630
openSNP	rs104894630
23andMe	rs104894630
SNPshot	rs104894630
SNPdbe	rs104894630
MSV3d	rs104894630
GWAS Ctlg	rs104894630

Max Magnitude

0

OMIM	603644
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894630(T;T)
Alt	rs104894630(T;T)
Reference	Rs104894630(C;C)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	SCO1
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	1
HGVS	NC_000017.10:g.10596122G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006555.5,