rs74315510
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315510(C;T) |
Make rs74315510(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 50524255 |
Gene | NCAPH2, SCO2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315510 |
dbSNP (classic) | rs74315510 |
ClinGen | rs74315510 |
ebi | rs74315510 |
HLI | rs74315510 |
Exac | rs74315510 |
Gnomad | rs74315510 |
Varsome | rs74315510 |
LitVar | rs74315510 |
Map | rs74315510 |
PheGenI | rs74315510 |
Biobank | rs74315510 |
1000 genomes | rs74315510 |
hgdp | rs74315510 |
ensembl | rs74315510 |
geneview | rs74315510 |
scholar | rs74315510 |
rs74315510 | |
pharmgkb | rs74315510 |
gwascentral | rs74315510 |
openSNP | rs74315510 |
23andMe | rs74315510 |
SNPshot | rs74315510 |
SNPdbe | rs74315510 |
MSV3d | rs74315510 |
GWAS Ctlg | rs74315510 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315510(T;T) |
Alt | rs74315510(T;T) |
Reference | Rs74315510(C;C) |
Significance | Pathogenic |
Disease | Cardioencephalomyopathy Myopia 6 |
Variation | info |
Gene | SCO2 NCAPH2 |
CLNDBN | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Myopia 6 |
Reversed | 1 |
HGVS | NC_000022.10:g.50962684G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006032.3, RCV000043618.2, |