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: 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: rs6785049
rs6785049 		0.882 0.080 3 119814886 intron variant G/A;T snv 0.46
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.020 1.000 2 2017 2019
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: rs1879997
rs1879997 		3 119802381 intron variant T/C snv 0.97
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1879997
rs1879997 		3 119802381 intron variant T/C snv 0.97
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs2472670
rs2472670 		0.925 0.040 3 119784158 intron variant C/T snv 0.71
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2472670
rs2472670 		0.925 0.040 3 119784158 intron variant C/T snv 0.71
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: rs3842689
rs3842689 		0.925 0.080 3 119782551 intron variant GAGAAG/-;GAGAAGGAGAAG delins 0.35
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3842689
rs3842689 		0.925 0.080 3 119782551 intron variant GAGAAG/-;GAGAAGGAGAAG delins 0.35
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
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: rs6785049
rs6785049 		0.882 0.080 3 119814886 intron variant G/A;T snv 0.46
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7643645
rs7643645 		0.882 0.080 3 119806650 intron variant A/G snv 0.31
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
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: rs7643645
rs7643645 		0.882 0.080 3 119806650 intron variant A/G snv 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
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