rs28461189

Orientation

plus

Stabilized

plus

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

Make rs28461189(C;G)

Make rs28461189(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

6489

Gene

COX1

is a	snp
is	mentioned by
dbSNP	rs28461189
dbSNP (classic)	rs28461189
ClinGen	rs28461189
ebi	rs28461189
HLI	rs28461189
Exac	rs28461189
Gnomad	rs28461189
Varsome	rs28461189
LitVar	rs28461189
Map	rs28461189
PheGenI	rs28461189
Biobank	rs28461189
1000 genomes	rs28461189
hgdp	rs28461189
ensembl	rs28461189
geneview	rs28461189
scholar	rs28461189
google	rs28461189
pharmgkb	rs28461189
gwascentral	rs28461189
openSNP	rs28461189
23andMe	rs28461189
SNPshot	rs28461189
SNPdbe	rs28461189
MSV3d	rs28461189
GWAS Ctlg	rs28461189

GMAF

0.001871

Max Magnitude

0

ClinVar
Risk	rs28461189(A;A) rs28461189(G;G)
Alt	rs28461189(A;A) rs28461189(G;G)
Reference	Rs28461189(C;C)
Significance	Pathogenic
Disease	Cytochrome c oxidase i deficiency
Variation	info
Gene	COX1
CLNDBN	Cytochrome c oxidase i deficiency
Reversed	0
HGVS	NC_012920.1:m.6489C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010308.2,