rs193922489
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193922489(-;-) |
Make rs193922489(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 37739507 |
Gene | HNF1B |
is a | snp |
is | mentioned by |
dbSNP | rs193922489 |
dbSNP (classic) | rs193922489 |
ClinGen | rs193922489 |
ebi | rs193922489 |
HLI | rs193922489 |
Exac | rs193922489 |
Gnomad | rs193922489 |
Varsome | rs193922489 |
LitVar | rs193922489 |
Map | rs193922489 |
PheGenI | rs193922489 |
Biobank | rs193922489 |
1000 genomes | rs193922489 |
hgdp | rs193922489 |
ensembl | rs193922489 |
geneview | rs193922489 |
scholar | rs193922489 |
rs193922489 | |
pharmgkb | rs193922489 |
gwascentral | rs193922489 |
openSNP | rs193922489 |
23andMe | rs193922489 |
SNPshot | rs193922489 |
SNPdbe | rs193922489 |
MSV3d | rs193922489 |
GWAS Ctlg | rs193922489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922489(-;-) |
Alt | rs193922489(-;-) |
Reference | Rs193922489(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypoplastic |
Variation | info |
Gene | HNF1B |
CLNDBN | Familial hypoplastic, glomerulocystic kidney |
Reversed | 1 |
HGVS | NC_000017.10:g.36099498delA |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030530.1, |
[PMID 18528323] A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.