rs398122982
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398122982(-;A) |
Make rs398122982(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 40695998 |
Gene | COQ8B |
is a | snp |
is | mentioned by |
dbSNP | rs398122982 |
dbSNP (classic) | rs398122982 |
ClinGen | rs398122982 |
ebi | rs398122982 |
HLI | rs398122982 |
Exac | rs398122982 |
Gnomad | rs398122982 |
Varsome | rs398122982 |
LitVar | rs398122982 |
Map | rs398122982 |
PheGenI | rs398122982 |
Biobank | rs398122982 |
1000 genomes | rs398122982 |
hgdp | rs398122982 |
ensembl | rs398122982 |
geneview | rs398122982 |
scholar | rs398122982 |
rs398122982 | |
pharmgkb | rs398122982 |
gwascentral | rs398122982 |
openSNP | rs398122982 |
23andMe | rs398122982 |
SNPshot | rs398122982 |
SNPdbe | rs398122982 |
MSV3d | rs398122982 |
GWAS Ctlg | rs398122982 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122982(A;A) |
Alt | rs398122982(A;A) |
Reference | Rs398122982(-;-) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | COQ8B ADCK4 |
CLNDBN | Nephrotic syndrome, type 9 |
Reversed | 1 |
HGVS | NC_000019.9:g.41201904dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000077758.4, |