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: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.040 1.000 4 2013 2018
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 4 2008 2016
dbSNP: rs9272143
rs9272143 		0.882 0.080 6 32633026 intron variant T/C snv 0.49
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.720 1.000 4 2013 2017
dbSNP: rs9272346
rs9272346 		0.790 0.320 6 32636595 intron variant G/A snv 0.54
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 4 2012 2019
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs9272143
rs9272143 		0.882 0.080 6 32633026 intron variant T/C snv 0.49
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.720 1.000 3 2013 2014
dbSNP: rs9272219
rs9272219 		0.925 0.160 6 32634492 intron variant G/T snv 0.29
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.710 1.000 3 2011 2014
dbSNP: rs9272346
rs9272346 		0.790 0.320 6 32636595 intron variant G/A snv 0.54
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.810 1.000 3 2007 2015
dbSNP: rs1071630
rs1071630 		0.851 0.120 6 32641349 missense variant T/A;C snv 0.49
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2015 2018
dbSNP: rs1129740
rs1129740 		0.882 0.080 6 32641328 missense variant G/A snv 0.49 0.26
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2015 2018
dbSNP: rs17843604
rs17843604 		0.925 0.120 6 32652506 intergenic variant C/T snv 0.49
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.800 1.000 2 2010 2019
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2007 2010
dbSNP: rs2187668
rs2187668 		0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2009 2012
dbSNP: rs6927022
rs6927022 		1.000 0.040 6 32644620 non coding transcript exon variant A/G snv 0.42
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 2 2012 2017
dbSNP: rs9272105
rs9272105 		0.925 0.120 6 32632222 intron variant G/A snv 0.55
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.810 1.000 2 2012 2015
dbSNP: rs9272143
rs9272143 		0.882 0.080 6 32633026 intron variant T/C snv 0.49
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2014 2014
dbSNP: rs9272785
rs9272785 		0.882 0.080 6 32642624 missense variant G/A snv 0.18 8.7E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 0.500 2 2016 2019
dbSNP: rs1048372
rs1048372 		6 32642659 synonymous variant T/C snv 0.63 0.34
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1071630
rs1071630 		0.851 0.120 6 32641349 missense variant T/A;C snv 0.49
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs1071630
rs1071630 		0.851 0.120 6 32641349 missense variant T/A;C snv 0.49
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1071630
rs1071630 		0.851 0.120 6 32641349 missense variant T/A;C snv 0.49
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1129740
rs1129740 		0.882 0.080 6 32641328 missense variant G/A snv 0.49 0.26
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1129740
rs1129740 		0.882 0.080 6 32641328 missense variant G/A snv 0.49 0.26
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs114549185
rs114549185 		1.000 0.040 6 32633427 intron variant C/G snv 5.2E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs114798579
rs114798579 		1.000 0.040 6 32629564 intron variant G/A snv 4.6E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012