Disease: Polycystic kidney disease, type 2 ×
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: rs1060503526
rs1060503526 		0.925 0.120 4 88038380 stop gained C/T snv 1.2E-05
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1135401753
rs1135401753 		1.000 0.120 4 88046780 stop gained C/G snv
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121918039
rs121918039 		1.000 0.120 4 88043277 stop gained G/A snv
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121918040
rs121918040 		0.925 0.120 4 88065479 stop gained C/T snv 7.0E-06
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121918041
rs121918041 		1.000 0.120 4 88043351 stop gained C/T snv
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121918042
rs121918042 		1.000 0.120 4 88046712 stop gained C/T snv
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1302726543
rs1302726543 		0.925 0.120 4 88019499 stop gained C/T snv 7.0E-06
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs200001068
rs200001068 		1.000 0.120 4 88038323 stop gained C/A;G;T snv 4.0E-06
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs369678636
rs369678636 		1.000 0.120 4 88074822 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs755226061
rs755226061 		1.000 0.120 4 88074903 stop gained C/A;G;T snv 4.0E-06; 3.6E-05; 4.0E-06
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs778235410
rs778235410 		0.925 0.120 4 88067946 stop gained C/G;T snv 2.4E-05; 1.2E-05
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121918043
rs121918043 		0.925 0.120 4 88046854 missense variant A/T snv
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1997 2018
dbSNP: rs1553925453
rs1553925453 		0.925 0.120 4 88038371 missense variant C/T snv
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 1997 2018
dbSNP: rs145877597
rs145877597 		1.000 0.120 4 88038372 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs147654263
rs147654263 		1.000 0.120 4 88067959 missense variant G/A snv 3.0E-03 3.1E-03
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs990932947
rs990932947 		1.000 0.120 4 88038324 missense variant G/A snv 8.0E-06
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1131692280
rs1131692280 		0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs2728121
rs2728121 		0.882 0.200 4 88075950 3 prime UTR variant C/T snv 0.13
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1553923513
rs1553923513 		1.000 0.120 4 88008210 frameshift variant GGCCCGCCGTGCCCCAGCCCAG/- delins
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553924174
rs1553924174 		1.000 0.120 4 88019552 frameshift variant -/C delins
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553925459
rs1553925459 		1.000 0.120 4 88038392 frameshift variant G/- delins
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553925467
rs1553925467 		1.000 0.120 4 88038494 frameshift variant G/- delins
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553928730
rs1553928730 		1.000 0.120 4 88074812 frameshift variant C/- delins
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1560598042
rs1560598042 		1.000 0.120 4 88019554 frameshift variant -/C delins
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1560608729
rs1560608729 		1.000 0.120 4 88038406 frameshift variant C/AGA delins
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0