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: 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: 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: rs13059232
rs13059232 		1.000 0.080 3 119802208 intron variant T/C snv 0.59
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1478478283
rs1478478283 		0.925 0.080 3 119812726 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1478478283
rs1478478283 		0.925 0.080 3 119812726 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
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: rs1523127
rs1523127 		0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
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: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
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: rs1523130
rs1523130 		3 119780660 5 prime UTR variant T/C snv 0.47
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
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: 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: 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: rs2472677
rs2472677 		0.925 0.080 3 119799570 intron variant C/T snv 0.53
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2472677
rs2472677 		0.925 0.080 3 119799570 intron variant C/T snv 0.53
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2472680
rs2472680 		0.882 0.160 3 119808929 intron variant T/C snv 0.90
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2472680
rs2472680 		0.882 0.160 3 119808929 intron variant T/C snv 0.90
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2472680
rs2472680 		0.882 0.160 3 119808929 intron variant T/C snv 0.90
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: 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