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: rs13205180
rs13205180 		6 51967696 intron variant C/T snv 0.38
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2017 2017
dbSNP: rs12212034
rs12212034 		6 51628064 intron variant C/T snv 0.32
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1321512
rs1321512 		6 51872379 intron variant G/A snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1396046
rs1396046 		6 51672194 intron variant G/A;C snv 0.50
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2017 2017
dbSNP: rs146895361
rs146895361 		6 51824798 intron variant G/A snv 1.7E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs149476743
rs149476743 		6 51770381 intron variant C/T snv 1.6E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs150576801
rs150576801 		6 51819190 intron variant C/T snv 1.7E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs2025751
rs2025751 		6 51757651 intron variant T/C snv 0.53
CUI: C0021888
Disease: Physiologic Intraocular Pressure
Physiologic Intraocular Pressure 		0.700 1.000 1 2014 2014
dbSNP: rs2025751
rs2025751 		6 51757651 intron variant T/C snv 0.53
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2014 2014
dbSNP: rs7766366
rs7766366 		6 51847961 missense variant T/C snv 2.1E-03 7.6E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs9296668
rs9296668 		6 51973465 intron variant A/G snv 0.38
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs9463733
rs9463733 		6 51857895 intron variant A/G snv 0.29
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
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: rs1581717
rs1581717 		6 51969222 intron variant C/A snv 0.38
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
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: 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