rs199474827

Orientation

plus

Stabilized

plus

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

Make rs199474827(A;A)

Make rs199474827(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

7671

Gene

COX2

is a	snp
is	mentioned by
dbSNP	rs199474827
dbSNP (classic)	rs199474827
ClinGen	rs199474827
ebi	rs199474827
HLI	rs199474827
Exac	rs199474827
Gnomad	rs199474827
Varsome	rs199474827
LitVar	rs199474827
Map	rs199474827
PheGenI	rs199474827
Biobank	rs199474827
1000 genomes	rs199474827
hgdp	rs199474827
ensembl	rs199474827
geneview	rs199474827
scholar	rs199474827
google	rs199474827
pharmgkb	rs199474827
gwascentral	rs199474827
openSNP	rs199474827
23andMe	rs199474827
SNPshot	rs199474827
SNPdbe	rs199474827
MSV3d	rs199474827
GWAS Ctlg	rs199474827

Max Magnitude

0

ClinVar
Risk	rs199474827(A;A)
Alt	rs199474827(A;A)
Reference	Rs199474827(T;T)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	COX2
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_012920.1:m.7671T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010296.2,