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: rs121918043
rs121918043 		0.925 0.120 4 88046854 missense variant A/T snv
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1392093609
rs1392093609 		1.000 0.120 4 88007759 missense variant C/T snv
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2003 2003
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: rs754868200
rs754868200 		0.925 0.200 4 88052022 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs754868200
rs754868200 		0.925 0.200 4 88052022 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C0010709
Disease: Cyst
Cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs778235410
rs778235410 		0.925 0.120 4 88067946 stop gained C/G;T snv 2.4E-05; 1.2E-05
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs886041114
rs886041114 		1.000 0.120 4 88046642 missense variant G/A;T snv 4.0E-06
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs886041114
rs886041114 		1.000 0.120 4 88046642 missense variant G/A;T snv 4.0E-06
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1131692280
rs1131692280 		0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 11 1998 2015
dbSNP: rs1553925453
rs1553925453 		0.925 0.120 4 88038371 missense variant C/T snv
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 9 2002 2017
dbSNP: rs749004212
rs749004212 		1.000 0.120 4 88038365 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1999 2016
dbSNP: rs1131692280
rs1131692280 		0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2000 2012
dbSNP: rs121918040
rs121918040 		0.925 0.120 4 88065479 stop gained C/T snv 7.0E-06
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 1996 2013
dbSNP: rs1187336837
rs1187336837 		1.000 0.120 4 88007931 frameshift variant C/-;CC delins
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 1999 2012
dbSNP: rs1302726543
rs1302726543 		0.925 0.120 4 88019499 stop gained C/T snv 7.0E-06
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2012 2016
dbSNP: rs2725203
rs2725203 		0.925 0.120 4 88074643 intron variant T/A;C snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725203
rs2725203 		0.925 0.120 4 88074643 intron variant T/A;C snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725205
rs2725205 		0.925 0.120 4 88064559 intron variant G/A snv 0.30
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725205
rs2725205 		0.925 0.120 4 88064559 intron variant G/A snv 0.30
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725207
rs2725207 		0.882 0.200 4 88058377 intron variant C/A snv 0.31
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725207
rs2725207 		0.882 0.200 4 88058377 intron variant C/A snv 0.31
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725210
rs2725210 		0.925 0.120 4 88052275 intron variant A/G snv 0.34
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725210
rs2725210 		0.925 0.120 4 88052275 intron variant A/G snv 0.34
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725215
rs2725215 		0.925 0.120 4 88040419 intron variant C/T snv 8.2E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs2725215
rs2725215 		0.925 0.120 4 88040419 intron variant C/T snv 8.2E-02
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013