rs199474828

Orientation

plus

Stabilized

plus

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

Make rs199474828(-;-)

Make rs199474828(-;AT)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8042

Gene

COX2

is a	snp
is	mentioned by
dbSNP	rs199474828
dbSNP (classic)	rs199474828
ClinGen	rs199474828
ebi	rs199474828
HLI	rs199474828
Exac	rs199474828
Gnomad	rs199474828
Varsome	rs199474828
LitVar	rs199474828
Map	rs199474828
PheGenI	rs199474828
Biobank	rs199474828
1000 genomes	rs199474828
hgdp	rs199474828
ensembl	rs199474828
geneview	rs199474828
scholar	rs199474828
google	rs199474828
pharmgkb	rs199474828
gwascentral	rs199474828
openSNP	rs199474828
23andMe	rs199474828
SNPshot	rs199474828
SNPdbe	rs199474828
MSV3d	rs199474828
GWAS Ctlg	rs199474828

Max Magnitude

0

ClinVar
Risk	rs199474828(-;-)
Alt	rs199474828(-;-)
Reference	Rs199474828(AT;AT)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	COX2
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_012920.1:m.8042_8043delAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010297.4,