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: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2012 2012
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		0.010 1.000 1 2013 2013
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2004 2004
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 < 0.001 1 2013 2013
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2009 2009
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.010 1.000 1 2006 2006
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.010 1.000 1 2020 2020
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		0.010 1.000 1 2020 2020
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 < 0.001 1 2010 2010
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 < 0.001 1 2010 2010
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0278484
Disease: Malignant neoplasm of colon stage IV
Malignant neoplasm of colon stage IV 		0.010 1.000 1 2007 2007
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2007 2007
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.010 1.000 1 2003 2003
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2016 2016
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2016 2016
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.010 1.000 1 2007 2007
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
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: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0006309
Disease: Brucellosis
Brucellosis 		0.010 1.000 1 2007 2007
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2014 2014
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016