DLG5, discs large MAGUK scaffold protein 5, 9231

N. diseases: 36; N. variants: 13
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: rs754466
rs754466 		10 77920676 intron variant A/G;T snv 0.22
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs11002319
rs11002319 		10 77876403 intron variant C/T snv 0.28
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs149380977
rs149380977 		10 77812829 intron variant T/C snv 1.2E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1650146
rs1650146 		10 77928450 non coding transcript exon variant A/G snv 0.72
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs754465
rs754465 		10 77920756 intron variant C/A snv 0.52
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs754465
rs754465 		10 77920756 intron variant C/A snv 0.52
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.100 0.700 10 2005 2016
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.070 0.714 7 2006 2016
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.040 0.750 4 2006 2016
dbSNP: rs1333407770
rs1333407770 		0.925 0.040 10 77811115 frameshift variant G/-;GG delins
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.030 1.000 3 2007 2016
dbSNP: rs2289310
rs2289310 		0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.030 1.000 3 2007 2016
dbSNP: rs1333407770
rs1333407770 		0.925 0.040 10 77811115 frameshift variant G/-;GG delins
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.020 1.000 2 2007 2016
dbSNP: rs1333407770
rs1333407770 		0.925 0.040 10 77811115 frameshift variant G/-;GG delins
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 0.500 2 2007 2016
dbSNP: rs2289310
rs2289310 		0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.020 1.000 2 2007 2016
dbSNP: rs2289310
rs2289310 		0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 0.500 2 2007 2016
dbSNP: rs1248634
rs1248634 		1.000 10 77819464 splice region variant G/A snv 0.29 0.24
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2009 2009
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		Digestive System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2009 2009
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C0020875
Disease: Ileal Diseases
Ileal Diseases 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1248696
rs1248696 		0.807 0.080 10 77856847 missense variant T/A;C snv 0.93
CUI: C2931133
Disease: Pediatric Crohn's disease
Pediatric Crohn's disease 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1407853222
rs1407853222 		1.000 0.040 10 77821330 missense variant G/A snv 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs150885638
rs150885638 		1.000 0.080 10 77842176 missense variant T/C snv 6.1E-04 3.5E-04
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2165047
rs2165047 		1.000 0.040 10 77791882 3 prime UTR variant C/T snv 0.26
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2165047
rs2165047 		1.000 0.040 10 77791882 3 prime UTR variant C/T snv 0.26
CUI: C2931133
Disease: Pediatric Crohn's disease
Pediatric Crohn's disease 		Digestive System Diseases 0.010 1.000 1 2007 2007