rs757472611
From SNPedia
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 |
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, |