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: rs1057518797
rs1057518797 		4 88008090 frameshift variant CCCGGGCA/TAGGACG delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057518797
rs1057518797 		4 88008090 frameshift variant CCCGGGCA/TAGGACG delins
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518797
rs1057518797 		4 88008090 frameshift variant CCCGGGCA/TAGGACG delins
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057518906
rs1057518906 		4 88007878 stop gained C/T snv 1.4E-05
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057518969
rs1057518969 		4 88036325 frameshift variant CT/- delins
CUI: C1840375
Disease: Elevated diastolic blood pressure
Elevated diastolic blood pressure 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518969
rs1057518969 		4 88036325 frameshift variant CT/- delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057518969
rs1057518969 		4 88036325 frameshift variant CT/- delins
CUI: C1840374
Disease: Elevated systolic blood pressure
Elevated systolic blood pressure 		Cardiovascular Diseases 0.700 0
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: rs1060503526
rs1060503526 		0.925 0.120 4 88038380 stop gained C/T snv 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 0.700 0
dbSNP: rs10965
rs10965 		0.925 0.120 4 88076931 3 prime UTR variant G/A;T 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 2 2010 2013
dbSNP: rs10965
rs10965 		0.925 0.120 4 88076931 3 prime UTR variant G/A;T snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
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: 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: 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: 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: 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: rs11938025
rs11938025 		0.925 0.120 4 88066124 intron variant A/T snv 0.25
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs11938025
rs11938025 		0.925 0.120 4 88066124 intron variant A/T snv 0.25
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
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: 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: 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: 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: 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