Disease: POLYCYSTIC KIDNEY DISEASE 1 ×
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: rs1555445585
rs1555445585 		1.000 0.120 16 2091571 frameshift variant TG/- delins
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555446053
rs1555446053 		1.000 0.120 16 2092152 frameshift variant TG/- delins
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs373952574
rs373952574 		1.000 0.120 16 2102629 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1996 2009
dbSNP: rs1555450920
rs1555450920 		1.000 0.120 16 2103295 missense variant T/C snv
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs9936785
rs9936785 		1.000 0.120 16 2105425 missense variant T/C snv 4.4E-02 0.19
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs139945204
rs139945204 		1.000 0.120 16 2100465 missense variant T/A snv 9.9E-04 1.2E-03
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1996 2009
dbSNP: rs1555444249
rs1555444249 		1.000 0.120 16 2090140 frameshift variant T/- del
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555454075
rs1555454075 		1.000 0.120 16 2108253 frameshift variant GT/- delins
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1567146946
rs1567146946 		1.000 0.120 16 2090508 frameshift variant GGTAG/- delins
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516202
rs1057516202 		1.000 0.120 16 2100027 inframe deletion GCT/- del
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555453210
rs1555453210 		1.000 0.120 16 2106622 missense variant G/T snv
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1996 2009
dbSNP: rs1060499699
rs1060499699 		1.000 0.120 16 2117579 missense variant G/T snv
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1401015526
rs1401015526 		1.000 0.120 16 2116855 stop gained G/T snv
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs199476098
rs199476098 		1.000 0.120 16 2091861 stop gained G/T snv 4.2E-06
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs141946034
rs141946034 		1.000 0.120 16 2094179 missense variant G/C snv 1.3E-03 7.6E-04
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1996 2009
dbSNP: rs1567196052
rs1567196052 		1.000 0.120 16 2109540 stop gained G/C snv
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs752447240
rs752447240 		1.000 0.120 16 2103390 missense variant G/C snv 1.3E-05
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs758896945
rs758896945 		1.000 0.120 16 2106022 missense variant G/C snv 4.2E-06 7.0E-06
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs140869992
rs140869992 		1.000 0.120 16 2108569 missense variant G/A;T snv 1.1E-02
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1996 2009
dbSNP: rs115538130
rs115538130 		1.000 0.120 16 2090179 missense variant G/A;T snv 9.3E-04; 4.2E-06
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1286585831
rs1286585831 		1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-06
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1420757773
rs1420757773 		1.000 0.120 16 2099917 stop gained G/A;T snv 6.0E-06
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1453883641
rs1453883641 		1.000 0.120 16 2106459 stop gained G/A;T snv
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555453207
rs1555453207 		1.000 0.120 16 2106619 missense variant G/A;T snv
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs200522524
rs200522524 		1.000 0.120 16 2102467 missense variant G/A;T snv 1.9E-05; 2.3E-04
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0