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: rs200391019
rs200391019 		0.925 0.120 6 52024940 missense variant G/A snv 1.5E-04 6.3E-05
CUI: C4023577
Disease: Abnormality of the intrahepatic bile duct
Abnormality of the intrahepatic bile duct 		0.700 0
dbSNP: rs727504096
rs727504096 		0.925 0.120 6 52079920 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C4023577
Disease: Abnormality of the intrahepatic bile duct
Abnormality of the intrahepatic bile duct 		0.700 0
dbSNP: rs137852944
rs137852944 		0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.810 1.000 19 2002 2015
dbSNP: rs142107837
rs142107837 		1.000 0.120 6 52028349 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 16 2002 2015
dbSNP: rs760222236
rs760222236 		1.000 0.120 6 51753281 missense variant A/G snv 5.2E-05 7.0E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 16 2002 2016
dbSNP: rs369925690
rs369925690 		0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 14 2002 2015
dbSNP: rs1210846081
rs1210846081 		1.000 0.120 6 51959953 missense variant T/C snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 2002 2015
dbSNP: rs200179145
rs200179145 		1.000 0.120 6 51903601 missense variant A/G;T snv 4.0E-06; 4.6E-04
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 2002 2016
dbSNP: rs745770404
rs745770404 		0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 12 2002 2015
dbSNP: rs777999875
rs777999875 		1.000 0.120 6 52017497 missense variant T/C snv 1.6E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 12 2002 2015
dbSNP: rs1554218666
rs1554218666 		1.000 0.120 6 51748246 missense variant G/A snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 11 2002 2016
dbSNP: rs1197981811
rs1197981811 		1.000 0.120 6 52025059 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs1210348558
rs1210348558 		1.000 0.120 6 51934238 missense variant A/G snv 4.0E-06
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs1288017883
rs1288017883 		1.000 0.120 6 52065011 missense variant A/G snv 4.0E-06
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs137852945
rs137852945 		1.000 0.120 6 51748563 missense variant G/A snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 10 2002 2015
dbSNP: rs137852946
rs137852946 		1.000 0.120 6 52024589 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs137852948
rs137852948 		1.000 0.120 6 51659468 missense variant A/G snv 2.8E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs137852950
rs137852950 		1.000 0.120 6 51659714 missense variant A/C snv 7.2E-05 8.4E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 10 2002 2015
dbSNP: rs141169758
rs141169758 		1.000 0.120 6 51753203 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs142146981
rs142146981 		1.000 0.120 6 51748375 missense variant T/C snv 1.4E-04 1.3E-04
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs146680689
rs146680689 		1.000 0.120 6 51619437 missense variant G/A snv 7.2E-05 7.0E-05
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs1554144359
rs1554144359 		1.000 0.120 6 51934247 missense variant T/C snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs1554183496
rs1554183496 		1.000 0.120 6 51659621 missense variant T/A snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs1554197025
rs1554197025 		1.000 0.120 6 52022839 missense variant G/A snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015
dbSNP: rs1554220680
rs1554220680 		1.000 0.120 6 51753266 missense variant T/C snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 10 2002 2015