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: rs10883365
rs10883365 		0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.830 1.000 5 2007 2014
dbSNP: rs11190140
rs11190140 		0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.810 1.000 2 2008 2014
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 2 2014 2016
dbSNP: rs6584283
rs6584283 		0.776 0.080 10 99530544 intron variant T/C snv 0.56
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 2 2009 2011
dbSNP: rs11190140
rs11190140 		0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs11190141
rs11190141 		1.000 0.040 10 99532633 upstream gene variant C/T snv 0.40
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2014 2016
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2014 2016
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2014 2016
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2014 2016
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2014 2016
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2014 2016
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2014 2016
dbSNP: rs12412391
rs12412391 		0.790 0.080 10 99529178 intron variant A/G;T snv
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2014 2016
dbSNP: rs10883371
rs10883371 		1.000 0.040 10 99532698 upstream gene variant C/A snv 0.54
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11190140
rs11190140 		0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11190140
rs11190140 		0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11190141
rs11190141 		1.000 0.040 10 99532633 upstream gene variant C/T snv 0.40
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs11190141
rs11190141 		1.000 0.040 10 99532633 upstream gene variant C/T snv 0.40
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs60386053
rs60386053 		10 99529104 intron variant G/A snv 0.24
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs6584283
rs6584283 		0.776 0.080 10 99530544 intron variant T/C snv 0.56
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs6584283
rs6584283 		0.776 0.080 10 99530544 intron variant T/C snv 0.56
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs6584283
rs6584283 		0.776 0.080 10 99530544 intron variant T/C snv 0.56
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs6584283
rs6584283 		0.776 0.080 10 99530544 intron variant T/C snv 0.56
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6584283
rs6584283 		0.776 0.080 10 99530544 intron variant T/C snv 0.56
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019