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: rs1169310
rs1169310 		12 121001630 3 prime UTR variant G/A snv 0.31
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 4 2008 2019
dbSNP: rs1169306
rs1169306 		12 121000508 3 prime UTR variant C/T snv 0.31
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs1169313
rs1169313 		12 121004867 intron variant T/A;C snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs1169314
rs1169314 		12 121005313 intron variant A/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs1182933
rs1182933 		1.000 0.120 12 121016819 upstream gene variant C/T snv 0.26
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs2264750
rs2264750 		12 121012362 intron variant C/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs735396
rs735396 		12 121001041 3 prime UTR variant T/C snv 0.39 0.31
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs1169310
rs1169310 		12 121001630 3 prime UTR variant G/A snv 0.31
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1169312
rs1169312 		12 121003658 3 prime UTR variant G/C;T snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1169313
rs1169313 		12 121004867 intron variant T/A;C snv
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels 		0.700 1.000 1 2008 2008
dbSNP: rs1169313
rs1169313 		12 121004867 intron variant T/A;C snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2008 2008
dbSNP: rs1169313
rs1169313 		12 121004867 intron variant T/A;C snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1169313
rs1169313 		12 121004867 intron variant T/A;C snv
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme 		0.700 1.000 1 2008 2008
dbSNP: rs1169314
rs1169314 		12 121005313 intron variant A/C;G snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1182933
rs1182933 		1.000 0.120 12 121016819 upstream gene variant C/T snv 0.26
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1182933
rs1182933 		1.000 0.120 12 121016819 upstream gene variant C/T snv 0.26
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2264750
rs2264750 		12 121012362 intron variant C/A;T snv
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2264750
rs2264750 		12 121012362 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: rs137853241
rs137853241 		1.000 0.080 12 121001155 missense variant C/T snv
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555212747
rs1555212747 		1.000 0.080 12 121001113 frameshift variant -/C delins
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555212749
rs1555212749 		1.000 0.080 12 121001118 frameshift variant AGCCACCT/- del
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1169310
rs1169310 		12 121001630 3 prime UTR variant G/A snv 0.31
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1169313
rs1169313 		12 121004867 intron variant T/A;C snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1316999782
rs1316999782 		1.000 0.080 12 121001151 missense variant G/A;C snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs146855738
rs146855738 		1.000 0.080 12 121001145 missense variant G/A;C snv 3.6E-05; 4.0E-06; 8.0E-06 5.6E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008