Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918673
HNF1B
0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05 2
rs1555833071
HNF1B
0.925 0.200 17 37744652 frameshift variant TCGT/- del 2
rs587776771
HNF1B
0.925 0.240 17 37744839 frameshift variant G/- delins 2
rs1057519371
LOC105371754 ; HNF1B
0.925 0.200 17 37710576 frameshift variant -/G delins 2
rs1057517744
HNF1B
1.000 0.200 17 37739443 stop gained G/A snv 1
rs1057524479
HNF1B
1.000 0.200 17 37699168 stop gained G/A snv 1
rs121918671
HNF1B
1.000 0.200 17 37744584 stop gained C/A;G snv 4.1E-06 1
rs121918672
HNF1B
0.925 0.200 17 37731814 stop gained G/A snv 1
rs121918674
HNF1B
1.000 0.200 17 37739541 missense variant G/C snv 1
rs121918675
HNF1B
1.000 0.200 17 37739490 missense variant C/T snv 1
rs138986885
HNF1B
1.000 0.200 17 37731634 missense variant G/A;C;T snv 4.8E-05; 1.8E-04; 1.6E-05 1
rs1555830002
HNF1B
1.000 0.200 17 37733556 splice donor variant C/A snv 1
rs1555832998
HNF1B
1.000 0.200 17 37744540 splice donor variant C/T snv 1
rs1555833144
HNF1B
1.000 0.200 17 37744764 frameshift variant C/- delins 1
rs1568665590
HNF1B
1.000 0.200 17 37733577 frameshift variant G/- delins 1
rs1568665905
HNF1B
1.000 0.200 17 37733730 frameshift variant -/TGTT delins 1
rs1568670479
HNF1B
1.000 0.200 17 37739439 splice donor variant C/A;T snv 1
rs1568670481
HNF1B
1.000 0.200 17 37739440 stop gained G/A snv 1
rs1568670533
HNF1B
1.000 0.200 17 37739471 stop gained C/T snv 1
rs1568670702
HNF1B
1.000 0.200 17 37739545 stop gained G/A snv 1
rs1800575
HNF1B
1.000 0.200 17 37739455 stop gained G/A snv 1
rs193922486
HNF1B
1.000 0.200 17 37744664 stop gained A/C;T snv 1
rs193922487
HNF1B
1.000 0.200 17 37744541 missense variant C/T snv 1
rs193922488
HNF1B
1.000 0.200 17 37739640 splice acceptor variant C/A snv 1
rs193922489
HNF1B
1.000 0.200 17 37739507 frameshift variant A/- del 1