HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Renal cysts and diabetes syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918675
rs121918675 		1.000 0.200 17 37739490 missense variant C/T snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 17 1999 2018
dbSNP: rs121918674
rs121918674 		1.000 0.200 17 37739541 missense variant G/C snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 13 1999 2015
dbSNP: rs886043813
rs886043813 		1.000 0.200 17 37731756 missense variant C/T snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 4 2004 2015
dbSNP: rs121918672
rs121918672 		0.925 0.200 17 37731814 stop gained G/A snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.710 1.000 4 2002 2015
dbSNP: rs113042313
rs113042313 		1.000 0.200 17 37710601 missense variant C/T snv 1.4E-04 4.9E-04
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 10 1999 2006
dbSNP: rs144425830
rs144425830 		1.000 0.200 17 37744659 missense variant C/A snv 5.8E-04 6.1E-04
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 10 1999 2006
dbSNP: rs1568670479
rs1568670479 		1.000 0.200 17 37739439 splice donor variant C/A;T snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 10 2001 2018
dbSNP: rs536638039
rs536638039 		1.000 0.200 17 37733586 missense variant C/G snv 7.2E-05 4.2E-05
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 10 1999 2006
dbSNP: rs761415487
rs761415487 		1.000 0.200 17 37733645 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 10 1999 2006
dbSNP: rs1057517744
rs1057517744 		1.000 0.200 17 37739443 stop gained G/A snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 8 2004 2016
dbSNP: rs1568670481
rs1568670481 		1.000 0.200 17 37739440 stop gained G/A snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs1800575
rs1800575 		1.000 0.200 17 37739455 stop gained G/A snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 6 1997 2015
dbSNP: rs1568645768
rs1568645768 		1.000 0.200 17 37710653 stop gained -/T delins
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2015
dbSNP: rs193922489
rs193922489 		1.000 0.200 17 37739507 frameshift variant A/- del
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2019
dbSNP: rs121918671
rs121918671 		1.000 0.200 17 37744584 stop gained C/A;G snv 4.1E-06
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 3 2001 2015
dbSNP: rs1568670533
rs1568670533 		1.000 0.200 17 37739471 stop gained C/T snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 3 2010 2015
dbSNP: rs1568670702
rs1568670702 		1.000 0.200 17 37739545 stop gained G/A snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 3 2004 2015
dbSNP: rs587776771
rs587776771 		0.925 0.240 17 37744839 frameshift variant G/- delins
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 3 2006 2015
dbSNP: rs121918673
rs121918673 		0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2002 2015
dbSNP: rs1057519371
rs1057519371 		0.925 0.200 17 37710576 frameshift variant -/G delins
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs193922482
rs193922482 		1.000 0.200 17 37704931 missense variant A/G snv 7.0E-06
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs193922491
rs193922491 		1.000 0.200 17 37733663 missense variant G/A;T snv 1.2E-05
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057524479
rs1057524479 		1.000 0.200 17 37699168 stop gained G/A snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs138986885
rs138986885 		1.000 0.200 17 37731634 missense variant G/A;C;T snv 4.8E-05; 1.8E-04; 1.6E-05
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs147816724
rs147816724 		1.000 0.200 17 37744703 missense variant A/C snv 5.4E-04 4.5E-04
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0