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: 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: 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: rs3732356
rs3732356 		3 119810266 non coding transcript exon variant G/T snv 0.87
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
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: rs3814058
rs3814058 		0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs3814058
rs3814058 		0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs3814058
rs3814058 		0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs3814058
rs3814058 		0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3814058
rs3814058 		0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3814058
rs3814058 		0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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