rs757472611

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype

Make rs757472611(-;G)

Make rs757472611(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

42798482

Gene	CNTD1, COA3

is a	snp
is	mentioned by
dbSNP	rs757472611
dbSNP (classic)	rs757472611
ClinGen	rs757472611
ebi	rs757472611
HLI	rs757472611
Exac	rs757472611
Gnomad	rs757472611
Varsome	rs757472611
LitVar	rs757472611
Map	rs757472611
PheGenI	rs757472611
Biobank	rs757472611
1000 genomes	rs757472611
hgdp	rs757472611
ensembl	rs757472611
geneview	rs757472611
scholar	rs757472611
google	rs757472611
pharmgkb	rs757472611
gwascentral	rs757472611
openSNP	rs757472611
23andMe	rs757472611
SNPshot	rs757472611
SNPdbe	rs757472611
MSV3d	rs757472611
GWAS Ctlg	rs757472611

Max Magnitude

0

ClinVar
Risk	rs757472611(G;G)
Alt	rs757472611(G;G)
Reference	Rs757472611(-;-)
Significance	Pathogenic
Disease	Cytochrome-c oxidase deficiency
Variation	info
Gene	COA3 CNTD1
CLNDBN	Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_000017.10:g.40950501dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170598.2,