rs28679680

Orientation

plus

Stabilized

plus

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

Make rs28679680(A;A)

Make rs28679680(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

6930

Gene

COX1

is a	snp
is	mentioned by
dbSNP	rs28679680
dbSNP (classic)	rs28679680
ClinGen	rs28679680
ebi	rs28679680
HLI	rs28679680
Exac	rs28679680
Gnomad	rs28679680
Varsome	rs28679680
LitVar	rs28679680
Map	rs28679680
PheGenI	rs28679680
Biobank	rs28679680
1000 genomes	rs28679680
hgdp	rs28679680
ensembl	rs28679680
geneview	rs28679680
scholar	rs28679680
google	rs28679680
pharmgkb	rs28679680
gwascentral	rs28679680
openSNP	rs28679680
23andMe	rs28679680
SNPshot	rs28679680
SNPdbe	rs28679680
MSV3d	rs28679680
GWAS Ctlg	rs28679680

Max Magnitude

0

ClinVar
Risk	rs28679680(A;A)
Alt	rs28679680(A;A)
Reference	Rs28679680(G;G)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	COX1
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_012920.1:m.6930G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010306.2,