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: rs1014283
rs1014283 		7 87447271 intron variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1014283
rs1014283 		7 87447271 intron variant C/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1149222
rs1149222 		1.000 0.080 7 87444459 intron variant G/T snv 0.67
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1558375
rs1558375 		1.000 0.080 7 87449753 intron variant T/C snv 0.27
CUI: C0016978
Disease: gallbladder neoplasm
gallbladder neoplasm 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs31672
rs31672 		1.000 0.080 7 87430383 intron variant C/T snv 0.67
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4148808
rs4148808 		7 87476479 intron variant T/C snv 0.19
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121918440
rs121918440 		0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		Digestive System Diseases 0.700 1.000 2 1998 2018
dbSNP: rs121918440
rs121918440 		0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs121918440
rs121918440 		0.882 0.040 7 87411948 stop gained G/A snv 2.1E-05
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs377160065
rs377160065 		0.925 0.040 7 87453005 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs377160065
rs377160065 		0.925 0.040 7 87453005 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		Digestive System Diseases 0.700 0
dbSNP: rs72552780
rs72552780 		1.000 7 87453050 stop gained G/A;C snv 8.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs759202962
rs759202962 		0.882 0.040 7 87408180 stop gained G/A snv 4.0E-06
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		0.700 0
dbSNP: rs759202962
rs759202962 		0.882 0.040 7 87408180 stop gained G/A snv 4.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 0
dbSNP: rs759202962
rs759202962 		0.882 0.040 7 87408180 stop gained G/A snv 4.0E-06
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		Digestive System Diseases 0.700 0
dbSNP: rs66904256
rs66904256 		0.882 0.080 7 87439777 missense variant T/A snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.710 1.000 10 1998 2017
dbSNP: rs72552778
rs72552778 		0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		Digestive System Diseases 0.700 1.000 10 2001 2016
dbSNP: rs121918443
rs121918443 		1.000 0.040 7 87443686 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.800 1.000 9 1998 2017
dbSNP: rs1257887155
rs1257887155 		0.925 0.040 7 87440228 missense variant C/T snv 7.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs138773456
rs138773456 		1.000 0.040 7 87423973 missense variant G/A snv 5.9E-04 7.2E-04
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs147134978
rs147134978 		1.000 0.040 7 87423907 missense variant G/A;T snv 3.6E-05
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs372476723
rs372476723 		1.000 0.040 7 87431409 missense variant T/C snv 2.0E-05 3.5E-05
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs56187107
rs56187107 		1.000 0.040 7 87409370 missense variant C/T snv 8.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs72552773
rs72552773 		1.000 0.040 7 87423985 missense variant A/G snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017
dbSNP: rs72552777
rs72552777 		1.000 0.040 7 87443709 missense variant T/C snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		Digestive System Diseases 0.700 1.000 9 1998 2017