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: 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: 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: 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
dbSNP: rs1554243589
rs1554243589 		1.000 0.120 6 51791283 missense variant A/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: rs1554263080
rs1554263080 		1.000 0.120 6 51830882 missense variant C/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: rs201881567
rs201881567 		1.000 0.120 6 51883179 missense variant A/C;G snv 5.0E-04; 2.4E-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: rs28937907
rs28937907 		1.000 0.120 6 52024819 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: rs777183511
rs777183511 		1.000 0.120 6 52050167 missense variant T/C;G snv 3.6E-05; 1.2E-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: rs1421520936
rs1421520936 		1.000 0.120 6 52025353 missense variant G/A 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 9 2002 2015
dbSNP: rs367678592
rs367678592 		1.000 0.120 6 51748470 missense variant T/C snv 1.2E-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 9 2002 2015
dbSNP: rs370277502
rs370277502 		1.000 0.120 6 52082399 missense variant G/A;T snv 1.2E-05; 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 9 2002 2015
dbSNP: rs398124484
rs398124484 		1.000 0.120 6 52026048 frameshift variant GG/C delins
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 9 2002 2016
dbSNP: rs755654557
rs755654557 		1.000 0.120 6 52084884 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 9 2002 2015
dbSNP: rs759687904
rs759687904 		1.000 0.120 6 51909295 missense variant C/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 9 2002 2015
dbSNP: rs761786260
rs761786260 		1.000 0.120 6 51934206 missense variant C/T 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 9 2002 2015