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: rs2645424
rs2645424 		0.827 0.120 8 11826954 intron variant A/C;G snv 0.56
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.820 1.000 2 2010 2014
dbSNP: rs1563290033
rs1563290033 		1.000 8 11802586 intron variant CTTCCTAGTGTGAGCG/- del
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		0.700 1.000 1 2018 2018
dbSNP: rs1563339323
rs1563339323 		1.000 8 11831494 intron variant TC/AG mnv
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		0.700 1.000 1 2018 2018
dbSNP: rs1616534
rs1616534 		8 11808942 intron variant C/G;T snv 9.8E-06; 0.58
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1736060
rs1736060 		8 11807229 intron variant C/G;T snv 0.54
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2645424
rs2645424 		0.827 0.120 8 11826954 intron variant A/C;G snv 0.56
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs6601615
rs6601615 		8 11835345 intron variant C/T snv 1.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6601615
rs6601615 		8 11835345 intron variant C/T snv 1.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2645424
rs2645424 		0.827 0.120 8 11826954 intron variant A/C;G snv 0.56
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.020 1.000 2 2013 2014
dbSNP: rs2645424
rs2645424 		0.827 0.120 8 11826954 intron variant A/C;G snv 0.56
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2645424
rs2645424 		0.827 0.120 8 11826954 intron variant A/C;G snv 0.56
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 1.000 1 2013 2013
dbSNP: rs2645429
rs2645429 		0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2645429
rs2645429 		0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2645429
rs2645429 		0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2645429
rs2645429 		0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2645429
rs2645429 		0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2645429
rs2645429 		0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2645429
rs2645429 		0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018