Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11085754
rs11085754
SMARCA4
0.925 0.120 19 11017920 intron variant A/G snv 0.41
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs11085754
rs11085754
SMARCA4
0.925 0.120 19 11017920 intron variant A/G snv 0.41
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2015 2015
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.010 1.000 1 2012 2012
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2014 2014
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2018 2018
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2016 2016
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2014 2014
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2019 2019
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2014 2014
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 1.000 1 2014 2014
dbSNP: rs11672232
rs11672232
SMARCA4
0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs11672232
rs11672232
SMARCA4
0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs11672232
rs11672232
SMARCA4
0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs11672232
rs11672232
SMARCA4
0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs11879293
rs11879293
SMARCA4
0.882 0.120 19 10961934 intron variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs11879293
rs11879293
SMARCA4
0.882 0.120 19 10961934 intron variant G/A;C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2017 2017
dbSNP: rs11879293
rs11879293
SMARCA4
0.882 0.120 19 10961934 intron variant G/A;C;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2019 2019
dbSNP: rs11879293
rs11879293
SMARCA4
0.882 0.120 19 10961934 intron variant G/A;C;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2017 2017
dbSNP: rs12232780
rs12232780
SMARCA4
0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2017 2017
dbSNP: rs12232780
rs12232780
SMARCA4
0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs12232780
rs12232780
SMARCA4
0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs12232780
rs12232780
SMARCA4
0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs12232780
rs12232780
SMARCA4
0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2017 2017
dbSNP: rs12232780
rs12232780
SMARCA4
0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs281875226
rs281875226
SMARCA4
1.000 19 11019661 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2010 2017