rs121918671
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918671(G;T) |
Make rs121918671(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 37744584 |
Gene | HNF1B |
is a | snp |
is | mentioned by |
dbSNP | rs121918671 |
dbSNP (classic) | rs121918671 |
ClinGen | rs121918671 |
ebi | rs121918671 |
HLI | rs121918671 |
Exac | rs121918671 |
Gnomad | rs121918671 |
Varsome | rs121918671 |
LitVar | rs121918671 |
Map | rs121918671 |
PheGenI | rs121918671 |
Biobank | rs121918671 |
1000 genomes | rs121918671 |
hgdp | rs121918671 |
ensembl | rs121918671 |
geneview | rs121918671 |
scholar | rs121918671 |
rs121918671 | |
pharmgkb | rs121918671 |
gwascentral | rs121918671 |
openSNP | rs121918671 |
23andMe | rs121918671 |
SNPshot | rs121918671 |
SNPdbe | rs121918671 |
MSV3d | rs121918671 |
GWAS Ctlg | rs121918671 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918671(C;C) rs121918671(T;T) |
Alt | rs121918671(C;C) rs121918671(T;T) |
Reference | Rs121918671(G;G) |
Significance | Pathogenic |
Disease | Familial hypoplastic |
Variation | info |
Gene | HNF1B |
CLNDBN | Familial hypoplastic, glomerulocystic kidney |
Reversed | 1 |
HGVS | NC_000017.10:g.36104575C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013473.20, |