rs764587648
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs764587648(-;-) |
Make rs764587648(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 40703787 |
Gene | COQ8B |
is a | snp |
is | mentioned by |
dbSNP | rs764587648 |
dbSNP (classic) | rs764587648 |
ClinGen | rs764587648 |
ebi | rs764587648 |
HLI | rs764587648 |
Exac | rs764587648 |
Gnomad | rs764587648 |
Varsome | rs764587648 |
LitVar | rs764587648 |
Map | rs764587648 |
PheGenI | rs764587648 |
Biobank | rs764587648 |
1000 genomes | rs764587648 |
hgdp | rs764587648 |
ensembl | rs764587648 |
geneview | rs764587648 |
scholar | rs764587648 |
rs764587648 | |
pharmgkb | rs764587648 |
gwascentral | rs764587648 |
openSNP | rs764587648 |
23andMe | rs764587648 |
SNPshot | rs764587648 |
SNPdbe | rs764587648 |
MSV3d | rs764587648 |
GWAS Ctlg | rs764587648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764587648(-;-) |
Alt | rs764587648(-;-) |
Reference | Rs764587648(A;A) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | COQ8B ADCK4 |
CLNDBN | Nephrotic syndrome, type 9 |
Reversed | 0 |
HGVS | NC_000019.9:g.41209692delA |
CLNSRC | |
CLNACC | RCV000416403.1, |