rs138986885
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138986885(C;C) |
Make rs138986885(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 37731634 |
Gene | HNF1B |
is a | snp |
is | mentioned by |
dbSNP | rs138986885 |
dbSNP (classic) | rs138986885 |
ClinGen | rs138986885 |
ebi | rs138986885 |
HLI | rs138986885 |
Exac | rs138986885 |
Gnomad | rs138986885 |
Varsome | rs138986885 |
LitVar | rs138986885 |
Map | rs138986885 |
PheGenI | rs138986885 |
Biobank | rs138986885 |
1000 genomes | rs138986885 |
hgdp | rs138986885 |
ensembl | rs138986885 |
geneview | rs138986885 |
scholar | rs138986885 |
rs138986885 | |
pharmgkb | rs138986885 |
gwascentral | rs138986885 |
openSNP | rs138986885 |
23andMe | rs138986885 |
SNPshot | rs138986885 |
SNPdbe | rs138986885 |
MSV3d | rs138986885 |
GWAS Ctlg | rs138986885 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138986885(A;A) rs138986885(C;C) rs138986885(T;T) |
Alt | rs138986885(A;A) rs138986885(C;C) rs138986885(T;T) |
Reference | Rs138986885(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial hypoplastic not provided |
Variation | info |
Gene | HNF1B |
CLNDBN | Familial hypoplastic, glomerulocystic kidney not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.36091625G>A; NC_000017.10:g.36091625G>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030518.1, RCV000421527.1, |