Source: BEFREE ×
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: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.760 1.000 6 2013 2019
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2014 2016
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2014 2016
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs527479125
rs527479125 		1.000 22 31845200 missense variant G/A;T snv 8.0E-06
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs541024038
rs541024038 		0.925 0.040 22 31843106 stop gained C/G;T snv 4.0E-06
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777459
rs587777459 		0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs5998152
rs5998152 		0.827 0.160 22 31867176 intron variant T/C snv 0.37
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs748813142
rs748813142 		1.000 22 31754941 missense variant A/G snv 6.0E-05 7.0E-06
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs754059546
rs754059546 		1.000 22 31845227 missense variant G/A snv 1.2E-05
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs886039256
rs886039256 		0.925 0.040 22 31798628 stop gained C/G snv
CUI: C1968848
Disease: Epilepsy, Familial Mesial Temporal Lobe
Epilepsy, Familial Mesial Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs886039278
rs886039278 		1.000 0.040 22 31815000 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018