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: rs1063355
rs1063355
0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1063355
rs1063355
0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1063355
rs1063355
0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1063355
rs1063355
0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1063355
rs1063355
0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2013 2013
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: rs1140343
rs1140343
1.000 0.080 6 32661360 missense variant T/C;G snv 0.20 0.50
Steroid-sensitive nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9274600
rs9274600
6 32667815 intron variant A/G snv 0.43
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs1063348
rs1063348
1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43
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: 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: 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: rs9274657
rs9274657
1.000 0.040 6 32668587 upstream gene variant G/A snv 0.37
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
dbSNP: rs9274247
rs9274247
6 32663518 non coding transcript exon variant G/A;T snv 0.35
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2019 2019
dbSNP: rs9274247
rs9274247
6 32663518 non coding transcript exon variant G/A;T snv 0.35
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs1770
rs1770
1.000 0.120 6 32660056 splice region variant A/G snv 0.31
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 1 2019 2019
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: 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: rs3891175
rs3891175
0.851 0.160 6 32666690 5 prime UTR variant C/T snv 0.20
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3891175
rs3891175
0.851 0.160 6 32666690 5 prime UTR variant C/T snv 0.20
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3891175
rs3891175
0.851 0.160 6 32666690 5 prime UTR variant C/T snv 0.20
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis
Digestive System Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3891175
rs3891175
0.851 0.160 6 32666690 5 prime UTR variant C/T 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: rs3891175
rs3891175
0.851 0.160 6 32666690 5 prime UTR variant C/T snv 0.20
Autoimmune Hepatitis with Centrilobular Necrosis
0.700 1.000 1 2018 2018