Source: BEFREE

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: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.800 0.917 11 2006 2017
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.040 1.000 4 2006 2017
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 0.500 4 2005 2015
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
Diabetes Mellitus, Insulin-Dependent
0.020 1.000 2 2006 2008
dbSNP: rs2073838
rs2073838
1.000 0.120 5 132313529 intron variant G/A snv 7.0E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 0.500 2 2008 2015
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2010 2010
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 1.000 1 2008 2008
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis
0.010 1.000 1 2005 2005
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 1.000 1 2010 2010
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0016169
Disease: pathologic fistula
pathologic fistula
0.010 1.000 1 2011 2011
dbSNP: rs272879
rs272879
0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 < 0.001 1 2010 2010
dbSNP: rs272879
rs272879
0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 < 0.001 1 2010 2010
dbSNP: rs272879
rs272879
0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2010 2010
dbSNP: rs272879
rs272879
0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 < 0.001 1 2010 2010
dbSNP: rs272893
rs272893
0.925 0.160 5 132327369 missense variant T/C;G snv 0.58; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2008 2008
dbSNP: rs272893
rs272893
0.925 0.160 5 132327369 missense variant T/C;G snv 0.58; 4.0E-06
Diabetes Mellitus, Insulin-Dependent
0.010 1.000 1 2006 2006
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 < 0.001 1 2015 2015
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease
0.010 1.000 1 2015 2015
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2005 2005
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C2931133
Disease: Pediatric Crohn's disease
Pediatric Crohn's disease
0.010 1.000 1 2007 2007
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
Diabetes Mellitus, Insulin-Dependent
0.010 1.000 1 2006 2006
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.010 1.000 1 2015 2015