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: 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: rs2725211
rs2725211
0.925 0.120 4 88049223 intron variant C/T snv 7.8E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2019
dbSNP: rs2725211
rs2725211
0.925 0.120 4 88049223 intron variant C/T snv 7.8E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2019
dbSNP: rs2728104
rs2728104
0.925 0.120 4 88051854 intron variant T/C snv 8.7E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2017
dbSNP: rs2728104
rs2728104
0.925 0.120 4 88051854 intron variant T/C snv 8.7E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 4 2010 2017
dbSNP: rs2728099
rs2728099
0.925 0.120 4 88054586 intron variant T/C snv 8.0E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.800 1.000 2 2009 2017
dbSNP: rs2725220
rs2725220
4 88038770 intron variant G/A;C snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.800 1.000 1 2012 2012
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
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
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
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
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
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
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