rs1057519371
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057519371(-;C) |
Make rs1057519371(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 37710576 |
Gene | HNF1B, LOC105371754 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519371 |
dbSNP (classic) | rs1057519371 |
ClinGen | rs1057519371 |
ebi | rs1057519371 |
HLI | rs1057519371 |
Exac | rs1057519371 |
Gnomad | rs1057519371 |
Varsome | rs1057519371 |
LitVar | rs1057519371 |
Map | rs1057519371 |
PheGenI | rs1057519371 |
Biobank | rs1057519371 |
1000 genomes | rs1057519371 |
hgdp | rs1057519371 |
ensembl | rs1057519371 |
geneview | rs1057519371 |
scholar | rs1057519371 |
rs1057519371 | |
pharmgkb | rs1057519371 |
gwascentral | rs1057519371 |
openSNP | rs1057519371 |
23andMe | rs1057519371 |
SNPshot | rs1057519371 |
SNPdbe | rs1057519371 |
MSV3d | rs1057519371 |
GWAS Ctlg | rs1057519371 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519371(C;C) |
Alt | rs1057519371(C;C) |
Reference | Rs1057519371(-;-) |
Significance | Pathogenic |
Disease | Familial hypoplastic |
Variation | info |
Gene | HNF1B |
CLNDBN | Familial hypoplastic, glomerulocystic kidney |
Reversed | 1 |
HGVS | NC_000017.10:g.36070585dupG |
CLNSRC | |
CLNACC | RCV000416588.1, |