HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
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: 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
dbSNP: rs1555830002
rs1555830002 		1.000 0.200 17 37733556 splice donor variant C/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: rs1555832998
rs1555832998 		1.000 0.200 17 37744540 splice donor 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 0.700 0
dbSNP: rs1555833071
rs1555833071 		0.925 0.200 17 37744652 frameshift variant TCGT/- del
CUI: C3280216
Disease: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 		0.700 0
dbSNP: rs1555833071
rs1555833071 		0.925 0.200 17 37744652 frameshift variant TCGT/- 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 0
dbSNP: rs1555833144
rs1555833144 		1.000 0.200 17 37744764 frameshift variant C/- 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 0
dbSNP: rs1568665590
rs1568665590 		1.000 0.200 17 37733577 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 0
dbSNP: rs1568665905
rs1568665905 		1.000 0.200 17 37733730 frameshift variant -/TGTT 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 0
dbSNP: rs193922486
rs193922486 		1.000 0.200 17 37744664 stop gained A/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 0
dbSNP: rs193922487
rs193922487 		1.000 0.200 17 37744541 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 0.700 0
dbSNP: rs193922488
rs193922488 		1.000 0.200 17 37739640 splice acceptor variant C/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: rs193922490
rs193922490 		1.000 0.200 17 37739473 missense variant A/G 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: rs193922492
rs193922492 		1.000 0.200 17 37731691 missense variant C/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 0
dbSNP: rs193922493
rs193922493 		1.000 0.200 17 37731678 missense variant T/C snv 8.0E-06 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 0
dbSNP: rs529294719
rs529294719 		1.000 0.200 17 37733611 missense variant C/G;T snv 2.4E-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: rs544890850
rs544890850 		1.000 0.200 17 37744778 missense variant G/A snv 1.3E-04 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 0
dbSNP: rs587776771
rs587776771 		0.925 0.240 17 37744839 frameshift variant G/- delins
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs886041820
rs886041820 		1.000 0.200 17 37739577 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 0
dbSNP: rs894213416
rs894213416 		1.000 0.200 17 37744556 missense variant A/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 0.700 0
dbSNP: rs914046953
rs914046953 		1.000 0.200 17 37731787 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 0.700 0
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: 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