rs267606883

Orientation

plus

Stabilized

plus

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

Make rs267606883(C;T)

Make rs267606883(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

6328

Gene

COX1

is a	snp
is	mentioned by
dbSNP	rs267606883
dbSNP (classic)	rs267606883
ClinGen	rs267606883
ebi	rs267606883
HLI	rs267606883
Exac	rs267606883
Gnomad	rs267606883
Varsome	rs267606883
LitVar	rs267606883
Map	rs267606883
PheGenI	rs267606883
Biobank	rs267606883
1000 genomes	rs267606883
hgdp	rs267606883
ensembl	rs267606883
geneview	rs267606883
scholar	rs267606883
google	rs267606883
pharmgkb	rs267606883
gwascentral	rs267606883
openSNP	rs267606883
23andMe	rs267606883
SNPshot	rs267606883
SNPdbe	rs267606883
MSV3d	rs267606883
GWAS Ctlg	rs267606883

Max Magnitude

0

ClinVar
Risk	rs267606883(T;T)
Alt	rs267606883(T;T)
Reference	Rs267606883(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.6328C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010309.4,