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: rs1063348
rs1063348 		1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1063348
rs1063348 		1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1130399
rs1130399 		1.000 0.040 6 32661978 missense variant G/A;T snv 0.20
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1140343
rs1140343 		1.000 0.080 6 32661360 missense variant T/C;G snv 0.20 0.50
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1770
rs1770 		1.000 0.120 6 32660056 splice region variant A/G snv 0.31
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 1 2019 2019
dbSNP: rs201184533
rs201184533 		1.000 0.080 6 32665110 intron variant C/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs201386475
rs201386475 		1.000 0.120 6 32668286 5 prime UTR variant -/CA delins
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2515895
rs2515895 		1.000 0.040 6 32661183 intron variant T/C snv 0.24
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs281862059
rs281862059 		1.000 0.120 6 32665011 missense variant C/T snv 5.0E-06 7.6E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2854272
rs2854272 		1.000 0.040 6 32661903 non coding transcript exon variant A/G snv 0.38
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs28724231
rs28724231 		1.000 0.080 6 32659314 upstream gene variant A/G snv 2.9E-02
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3189152
rs3189152 		1.000 0.080 6 32666564 missense variant A/G;T snv 0.19 0.39
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs3828800
rs3828800 		1.000 0.120 6 32668286 5 prime UTR variant G/A snv 0.20
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs41563814
rs41563814 		1.000 0.040 6 32664881 missense variant A/T snv 3.2E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4988888
rs4988888 		1.000 0.040 6 32667420 intron variant T/C snv 0.20
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs77296290
rs77296290 		1.000 0.040 6 32667519 intron variant C/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs9273401
rs9273401 		1.000 0.080 6 32659352 upstream gene variant A/G snv 0.10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9273404
rs9273404 		1.000 0.040 6 32659383 upstream gene variant A/G snv 0.56
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9273410
rs9273410 		1.000 0.080 6 32659473 3 prime UTR variant C/A snv 0.51
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9274299
rs9274299 		1.000 0.040 6 32664181 non coding transcript exon variant C/A;G;T snv 1.7E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs9274299
rs9274299 		1.000 0.040 6 32664181 non coding transcript exon variant C/A;G;T snv 1.7E-03
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs9274614
rs9274614 		1.000 0.120 6 32668069 intron variant C/A;G snv
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9274623
rs9274623 		1.000 0.040 6 32668221 intron variant G/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs9274657
rs9274657 		1.000 0.040 6 32668587 upstream gene variant G/A snv 0.37
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs9274657
rs9274657 		1.000 0.040 6 32668587 upstream gene variant G/A snv 0.37
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017