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: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		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: 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: C0006309
Disease: Brucellosis
Brucellosis 		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: 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: 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: 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: C0278484
Disease: Malignant neoplasm of colon stage IV
Malignant neoplasm of colon stage IV 		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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		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: C0018213
Disease: Graves Disease
Graves Disease 		0.010 < 0.001 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: C3887499
Disease: Renal cyst
Renal cyst 		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: C0031099
Disease: Periodontitis
Periodontitis 		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: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.010 1.000 1 2020 2020