rs398122978
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122978(C;T) |
Make rs398122978(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 40705140 |
Gene | COQ8B |
is a | snp |
is | mentioned by |
dbSNP | rs398122978 |
dbSNP (classic) | rs398122978 |
ClinGen | rs398122978 |
ebi | rs398122978 |
HLI | rs398122978 |
Exac | rs398122978 |
Gnomad | rs398122978 |
Varsome | rs398122978 |
LitVar | rs398122978 |
Map | rs398122978 |
PheGenI | rs398122978 |
Biobank | rs398122978 |
1000 genomes | rs398122978 |
hgdp | rs398122978 |
ensembl | rs398122978 |
geneview | rs398122978 |
scholar | rs398122978 |
rs398122978 | |
pharmgkb | rs398122978 |
gwascentral | rs398122978 |
openSNP | rs398122978 |
23andMe | rs398122978 |
SNPshot | rs398122978 |
SNPdbe | rs398122978 |
MSV3d | rs398122978 |
GWAS Ctlg | rs398122978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122978(T;T) |
Alt | rs398122978(T;T) |
Reference | Rs398122978(C;C) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | COQ8B ADCK4 |
CLNDBN | Nephrotic syndrome, type 9 |
Reversed | 1 |
HGVS | NC_000019.9:g.41211045G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000077753.3, |