rs587777784
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777784(C;T) |
Make rs587777784(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 103571695 |
Gene | APOPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777784 |
dbSNP (classic) | rs587777784 |
ClinGen | rs587777784 |
ebi | rs587777784 |
HLI | rs587777784 |
Exac | rs587777784 |
Gnomad | rs587777784 |
Varsome | rs587777784 |
LitVar | rs587777784 |
Map | rs587777784 |
PheGenI | rs587777784 |
Biobank | rs587777784 |
1000 genomes | rs587777784 |
hgdp | rs587777784 |
ensembl | rs587777784 |
geneview | rs587777784 |
scholar | rs587777784 |
rs587777784 | |
pharmgkb | rs587777784 |
gwascentral | rs587777784 |
openSNP | rs587777784 |
23andMe | rs587777784 |
SNPshot | rs587777784 |
SNPdbe | rs587777784 |
MSV3d | rs587777784 |
GWAS Ctlg | rs587777784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777784(G;G) rs587777784(T;T) |
Alt | rs587777784(G;G) rs587777784(T;T) |
Reference | Rs587777784(C;C) |
Significance | Pathogenic |
Disease | Cytochrome-c oxidase deficiency |
Variation | info |
Gene | APOPT1 |
CLNDBN | Cytochrome-c oxidase deficiency |
Reversed | 0 |
HGVS | NC_000014.8:g.104038032C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144485.2, |