Source: BEFREE

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: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.090 0.889 9 1997 2014
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.070 0.857 7 2001 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.060 1.000 6 1999 2012
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.060 1.000 6 1999 2012
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.050 0.800 5 2003 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.040 0.750 4 1998 2014
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 1.000 3 2003 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.030 1.000 3 2009 2014
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.030 1.000 3 2009 2014
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 0.500 2 2010 2014
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2007 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 0.500 2 2003 2007
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 0.500 2 2010 2014
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 1.000 2 2005 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2016 2016
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2004 2004
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		0.010 1.000 1 2005 2005
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.010 1.000 1 2007 2007
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.010 1.000 1 2020 2020
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 < 0.001 1 2010 2010
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013