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: rs200432861
rs200432861 		1.000 0.040 6 51775844 missense variant G/A;C snv 2.4E-05; 2.0E-05
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: 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: 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
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: 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: rs778329699
rs778329699 		1.000 0.120 6 52062660 missense variant C/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: rs1412045164
rs1412045164 		1.000 0.120 6 52010310 missense variant T/C snv 3.5E-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: 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: rs746838237
rs746838237 		1.000 0.120 6 51959882 frameshift variant -/T delins 9.8E-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 9 2002 2016
dbSNP: rs749454235
rs749454235 		1.000 0.120 6 52071006 missense variant C/T snv 2.0E-05 7.0E-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