rs199474829

Orientation

plus

Stabilized

plus

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

Make rs199474829(A;A)

Make rs199474829(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

7896

Gene

COX2

is a	snp
is	mentioned by
dbSNP	rs199474829
dbSNP (classic)	rs199474829
ClinGen	rs199474829
ebi	rs199474829
HLI	rs199474829
Exac	rs199474829
Gnomad	rs199474829
Varsome	rs199474829
LitVar	rs199474829
Map	rs199474829
PheGenI	rs199474829
Biobank	rs199474829
1000 genomes	rs199474829
hgdp	rs199474829
ensembl	rs199474829
geneview	rs199474829
scholar	rs199474829
google	rs199474829
pharmgkb	rs199474829
gwascentral	rs199474829
openSNP	rs199474829
23andMe	rs199474829
SNPshot	rs199474829
SNPdbe	rs199474829
MSV3d	rs199474829
GWAS Ctlg	rs199474829

Max Magnitude

0

ClinVar
Risk	rs199474829(A;A)
Alt	rs199474829(A;A)
Reference	Rs199474829(G;G)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	COX2
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_012920.1:m.7896G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010298.2,