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: rs2291652
rs2291652
MUC4
3 195750920 synonymous variant G/A snv 0.44 0.36
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2688482
rs2688482
MUC4
1.000 0.120 3 195802247 intron variant T/C snv 0.66
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 1 2015 2015
dbSNP: rs3103933
rs3103933
MUC4
1.000 0.120 3 195758569 intron variant A/G;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 1 2015 2015
dbSNP: rs67175307
rs67175307
MUC4
3 195752366 splice region variant C/T snv 5.2E-02 6.2E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs73085315
rs73085315
MUC4
3 195778256 intron variant G/C snv 2.5E-02 0.10
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.700 1.000 1 2015 2015
dbSNP: rs73085315
rs73085315
MUC4
3 195778256 intron variant G/C snv 2.5E-02 0.10
CUI: C0037369
Disease: Smoking
Smoking 		0.700 1.000 1 2015 2015
dbSNP: rs77370297
rs77370297
MUC4
3 195765482 intron variant C/A;T snv 1.7E-02 1.8E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs77370297
rs77370297
MUC4
3 195765482 intron variant C/A;T snv 1.7E-02 1.8E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs9714060
rs9714060
MUC4
1.000 0.080 3 195760605 intron variant A/C;G snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2017 2017
dbSNP: rs762581936
rs762581936
MUC4
0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.020 1.000 2 2012 2015
dbSNP: rs762581936
rs762581936
MUC4
0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 1.000 2 2012 2015
dbSNP: rs1104760
rs1104760
MUC4
1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
dbSNP: rs1452975937
rs1452975937
MUC4
0.925 0.040 3 195790889 missense variant C/T snv 4.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2006 2006
dbSNP: rs1452975937
rs1452975937
MUC4
0.925 0.040 3 195790889 missense variant C/T snv 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2006 2006
dbSNP: rs2246901
rs2246901
MUC4
0.882 0.080 3 195762138 missense variant C/A;T snv 0.67
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2006 2006
dbSNP: rs2246901
rs2246901
MUC4
0.882 0.080 3 195762138 missense variant C/A;T snv 0.67
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
dbSNP: rs2246901
rs2246901
MUC4
0.882 0.080 3 195762138 missense variant C/A;T snv 0.67
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2006 2006
dbSNP: rs2258447
rs2258447
MUC4
1.000 0.040 3 195752385 missense variant T/A;C snv 0.89
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
dbSNP: rs2550236
rs2550236
MUC4
0.882 0.080 3 195795450 intron variant A/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2550236
rs2550236
MUC4
0.882 0.080 3 195795450 intron variant A/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2550236
rs2550236
MUC4
0.882 0.080 3 195795450 intron variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2688513
rs2688513
MUC4
1.000 0.040 3 195778793 missense variant G/A;C;T snv 0.79; 4.5E-06
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
dbSNP: rs2688515
rs2688515
MUC4
0.882 0.080 3 195800600 intron variant C/G;T snv 0.50
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2688515
rs2688515
MUC4
0.882 0.080 3 195800600 intron variant C/G;T snv 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2688515
rs2688515
MUC4
0.882 0.080 3 195800600 intron variant C/G;T snv 0.50
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013