rs121909602

Orientation

plus

Stabilized

plus

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

Make rs121909602(A;A)

Make rs121909602(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35651302

Gene

COX6B1

is a	snp
is	mentioned by
dbSNP	rs121909602
dbSNP (classic)	rs121909602
ClinGen	rs121909602
ebi	rs121909602
HLI	rs121909602
Exac	rs121909602
Gnomad	rs121909602
Varsome	rs121909602
LitVar	rs121909602
Map	rs121909602
PheGenI	rs121909602
Biobank	rs121909602
1000 genomes	rs121909602
hgdp	rs121909602
ensembl	rs121909602
geneview	rs121909602
scholar	rs121909602
google	rs121909602
pharmgkb	rs121909602
gwascentral	rs121909602
openSNP	rs121909602
23andMe	rs121909602
SNPshot	rs121909602
SNPdbe	rs121909602
MSV3d	rs121909602
GWAS Ctlg	rs121909602

Max Magnitude

0

OMIM	124089
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909602(A;A)
Alt	rs121909602(A;A)
Reference	Rs121909602(G;G)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	COX6B1
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_000019.9:g.36142204G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018371.29,