rs369573693
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs369573693(A;A) |
Make rs369573693(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 40700387 |
Gene | COQ8B |
is a | snp |
is | mentioned by |
dbSNP | rs369573693 |
dbSNP (classic) | rs369573693 |
ClinGen | rs369573693 |
ebi | rs369573693 |
HLI | rs369573693 |
Exac | rs369573693 |
Gnomad | rs369573693 |
Varsome | rs369573693 |
LitVar | rs369573693 |
Map | rs369573693 |
PheGenI | rs369573693 |
Biobank | rs369573693 |
1000 genomes | rs369573693 |
hgdp | rs369573693 |
ensembl | rs369573693 |
geneview | rs369573693 |
scholar | rs369573693 |
rs369573693 | |
pharmgkb | rs369573693 |
gwascentral | rs369573693 |
openSNP | rs369573693 |
23andMe | rs369573693 |
SNPshot | rs369573693 |
SNPdbe | rs369573693 |
MSV3d | rs369573693 |
GWAS Ctlg | rs369573693 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369573693(A;A) |
Alt | rs369573693(A;A) |
Reference | Rs369573693(G;G) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | COQ8B ADCK4 |
CLNDBN | Nephrotic syndrome, type 9 |
Reversed | 0 |
HGVS | NC_000019.9:g.41206292G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000077756.4, |