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: rs1057518952
rs1057518952 		1.000 0.080 6 52024728 frameshift variant -/C delins
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs786204707
rs786204707 		0.925 0.200 6 52043636 stop gained C/T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852944
rs137852944 		0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs137852949
rs137852949 		0.925 0.240 6 52058349 stop gained G/A;C snv 6.6E-04; 4.0E-06
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs746972457
rs746972457 		0.925 0.240 6 52026044 frameshift variant G/- delins 5.1E-04 2.2E-04
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs781368899
rs781368899 		1.000 0.120 6 51659907 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs137852944
rs137852944 		0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04
CUI: C1849766
Disease: Periportal fibrosis
Periportal fibrosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1057518952
rs1057518952 		1.000 0.080 6 52024728 frameshift variant -/C delins
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs786204707
rs786204707 		0.925 0.200 6 52043636 stop gained C/T snv
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs11754532
rs11754532 		1.000 0.040 6 51786884 intron variant C/G snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1326570
rs1326570 		1.000 0.040 6 51800799 intron variant T/A;C snv 0.75
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2104521
rs2104521 		1.000 0.040 6 51791701 intron variant T/C snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2104522
rs2104522 		1.000 0.040 6 51791753 intron variant G/A snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2397061
rs2397061 		1.000 0.040 6 51774079 intron variant T/C snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2894788
rs2894788 		1.000 0.040 6 51778470 intron variant C/T snv 0.57
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs41412044
rs41412044 		1.000 0.040 6 51773363 intron variant T/C snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4715233
rs4715233 		1.000 0.040 6 51791590 intron variant A/G snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6458777
rs6458777 		1.000 0.040 6 51790609 intron variant A/G snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6922497
rs6922497 		1.000 0.040 6 51772913 intron variant C/T snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6940892
rs6940892 		1.000 0.040 6 51789633 intron variant T/C snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs728996
rs728996 		1.000 0.040 6 51778216 intron variant C/T snv 0.56
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9370050
rs9370050 		1.000 0.040 6 51755123 intron variant T/C snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9474070
rs9474070 		1.000 0.040 6 51783015 intron variant G/A snv 0.75
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs369925690
rs369925690 		0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2002 2010
dbSNP: rs745770404
rs745770404 		0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2002 2010