Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Biliary calculi
CUI: C0242216
Disease: Biliary calculi
31 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.700 1.000 1 2018 2018
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
2575 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.700 1.000 1 2018 2018
Serum gamma-glutamyl transferase measurement
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
108 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.700 1.000 1 2011 2011
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
CUI: C2674252
Disease: VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
2 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.700 0
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.030 1.000 3 2012 2019
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 1.000 2 2012 2019
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 0.500 2 2012 2019
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
58 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 1.000 2 2012 2014
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2018 2018
Bronchiolitis
CUI: C0006271
Disease: Bronchiolitis
32 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2012 2012
Cholangitis
CUI: C0008311
Disease: Cholangitis
1 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2014 2014
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2011 2011
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
24 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1 2012 2012
Immunoglobulin A deficiency (disorder)
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
25 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2016 2016
Infection caused by Helicobacter pylori
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
56 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2012 2012
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019
Viral gastroenteritis
CUI: C0152517
Disease: Viral gastroenteritis
1 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2018 2018