DLG5, discs large MAGUK scaffold protein 5, 9231

N. diseases: 36; N. variants: 13
Disease: Inflammatory Bowel Diseases ×
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: 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: 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: 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