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: rs3814055
rs3814055 		0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs12721613
rs12721613 		1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
dbSNP: rs2461823
rs2461823 		0.925 0.080 3 119801278 intron variant T/A;C;G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs749979628
rs749979628 		1.000 0.080 3 119810180 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
dbSNP: rs2461823
rs2461823 		0.925 0.080 3 119801278 intron variant T/A;C;G snv
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs7643645
rs7643645 		0.882 0.080 3 119806650 intron variant A/G snv 0.31
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 1.000 1 2010 2010
dbSNP: rs984502020
rs984502020 		3 119807429 missense variant G/C snv
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2010 2010
dbSNP: rs1523127
rs1523127 		0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2011 2011
dbSNP: rs3814055
rs3814055 		0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2007 2011
dbSNP: rs6785049
rs6785049 		0.882 0.080 3 119814886 intron variant G/A;T snv 0.46
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2011 2011
dbSNP: rs12721602
rs12721602 		0.925 0.040 3 119781009 5 prime UTR variant G/A snv 1.5E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12721602
rs12721602 		0.925 0.040 3 119781009 5 prime UTR variant G/A snv 1.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12721607
rs12721607 		1.000 0.040 3 119807356 missense variant G/A snv 1.4E-02 1.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1523127
rs1523127 		0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1523128
rs1523128 		0.882 0.080 3 119781817 5 prime UTR variant A/G snv 0.89
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1523128
rs1523128 		0.882 0.080 3 119781817 5 prime UTR variant A/G snv 0.89
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2276707
rs2276707 		0.925 0.040 3 119815306 intron variant C/G;T snv 4.1E-04; 0.24
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2276707
rs2276707 		0.925 0.040 3 119815306 intron variant C/G;T snv 4.1E-04; 0.24
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3814055
rs3814055 		0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3814057
rs3814057 		0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3814057
rs3814057 		0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs45610735
rs45610735 		1.000 0.040 3 119807356 missense variant G/A snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6785049
rs6785049 		0.882 0.080 3 119814886 intron variant G/A;T snv 0.46
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12721613
rs12721613 		1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721613
rs12721613 		1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012