rs193922483
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922483(C;T) |
Make rs193922483(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 37744745 |
Gene | HNF1B |
is a | snp |
is | mentioned by |
dbSNP | rs193922483 |
dbSNP (classic) | rs193922483 |
ClinGen | rs193922483 |
ebi | rs193922483 |
HLI | rs193922483 |
Exac | rs193922483 |
Gnomad | rs193922483 |
Varsome | rs193922483 |
LitVar | rs193922483 |
Map | rs193922483 |
PheGenI | rs193922483 |
Biobank | rs193922483 |
1000 genomes | rs193922483 |
hgdp | rs193922483 |
ensembl | rs193922483 |
geneview | rs193922483 |
scholar | rs193922483 |
rs193922483 | |
pharmgkb | rs193922483 |
gwascentral | rs193922483 |
openSNP | rs193922483 |
23andMe | rs193922483 |
SNPshot | rs193922483 |
SNPdbe | rs193922483 |
MSV3d | rs193922483 |
GWAS Ctlg | rs193922483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922483(T;T) |
Alt | rs193922483(T;T) |
Reference | Rs193922483(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial hypoplastic |
Variation | info |
Gene | HNF1B |
CLNDBN | Familial hypoplastic, glomerulocystic kidney |
Reversed | 1 |
HGVS | NC_000017.10:g.36104736G>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030521.1, |