EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
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: rs587777231
rs587777231 		1.000 6 12293978 missense variant A/G snv
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		0.800 1.000 1 2013 2013
dbSNP: rs587777232
rs587777232 		1.000 6 12292506 missense variant C/A snv
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		0.800 1.000 1 2013 2013
dbSNP: rs587777233
rs587777233 		1.000 6 12292467 missense variant T/A snv
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.800 1.000 1 2013 2013
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1629862
rs1629862 		1.000 0.040 6 12295643 intron variant A/G snv 0.89
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1630736
rs1630736 		6 12295754 intron variant C/T snv 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1794849
rs1794849 		6 12294629 intron variant T/A;C snv 0.63
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs587777234
rs587777234 		1.000 6 12293956 stop gained T/G snv
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.700 0
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.080 0.875 8 2003 2018
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 1.000 2 2013 2014