rs1800575
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1800575(C;T) |
Make rs1800575(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 37739455 |
Gene | HNF1B |
is a | snp |
is | mentioned by |
dbSNP | rs1800575 |
dbSNP (classic) | rs1800575 |
ClinGen | rs1800575 |
ebi | rs1800575 |
HLI | rs1800575 |
Exac | rs1800575 |
Gnomad | rs1800575 |
Varsome | rs1800575 |
LitVar | rs1800575 |
Map | rs1800575 |
PheGenI | rs1800575 |
Biobank | rs1800575 |
1000 genomes | rs1800575 |
hgdp | rs1800575 |
ensembl | rs1800575 |
geneview | rs1800575 |
scholar | rs1800575 |
rs1800575 | |
pharmgkb | rs1800575 |
gwascentral | rs1800575 |
openSNP | rs1800575 |
23andMe | rs1800575 |
SNPshot | rs1800575 |
SNPdbe | rs1800575 |
MSV3d | rs1800575 |
GWAS Ctlg | rs1800575 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1800575(T;T) |
Alt | rs1800575(T;T) |
Reference | Rs1800575(C;C) |
Significance | Pathogenic |
Disease | Familial hypoplastic |
Variation | info |
Gene | HNF1B |
CLNDBN | Familial hypoplastic, glomerulocystic kidney |
Reversed | 1 |
HGVS | NC_000017.10:g.36099446G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013470.23, |