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: rs13214992
rs13214992
6 32632808 5 prime UTR variant G/A snv 6.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2018 2018
dbSNP: rs13215343
rs13215343
1.000 0.040 6 32633277 intron variant C/A;G snv 5.0E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1391371
rs1391371
0.925 0.160 6 32636021 intron variant A/C;T snv
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1391371
rs1391371
0.925 0.160 6 32636021 intron variant A/C;T snv
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs146668528
rs146668528
1.000 0.080 6 32630251 intron variant C/T snv 5.7E-02
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs146668528
rs146668528
1.000 0.080 6 32630251 intron variant C/T snv 5.7E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs146682150
rs146682150
6 32640505 intron variant -/A;GAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs147897616
rs147897616
1.000 0.040 6 32638205 intron variant -/A;G ins
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs149787317
rs149787317
1.000 0.040 6 32631878 intron variant T/C snv
Child Development Disorders, Pervasive
Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs149787317
rs149787317
1.000 0.040 6 32631878 intron variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs17211510
rs17211510
1.000 0.120 6 32634653 intron variant C/A snv 0.26
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs17211510
rs17211510
1.000 0.120 6 32634653 intron variant C/A snv 0.26
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs17612858
rs17612858
1.000 0.040 6 32652845 intergenic variant A/T snv 0.56
CUI: C1280469
Disease: Podoconiosis
Podoconiosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17843604
rs17843604
0.925 0.120 6 32652506 intergenic variant C/T snv 0.49
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17843707
rs17843707
1.000 0.040 6 32654605 downstream gene variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs17843707
rs17843707
1.000 0.040 6 32654605 downstream gene variant T/C snv
Child Development Disorders, Pervasive
Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs199889539
rs199889539
1.000 0.040 6 32637642 intron variant -/T ins
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs200930495
rs200930495
6 32644683 non coding transcript exon variant G/A snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2036202
rs2036202
1.000 0.040 6 32628532 intron variant C/T snv 0.76
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2040406
rs2040406
0.882 0.240 6 32635230 intron variant A/G snv 0.23
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: rs2040406
rs2040406
0.882 0.240 6 32635230 intron variant A/G snv 0.23
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs2040406
rs2040406
0.882 0.240 6 32635230 intron variant A/G snv 0.23
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs2133035
rs2133035
1.000 0.040 6 32628698 intron variant C/A snv 0.27
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2187668
rs2187668
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0238067
Disease: Colitis, Collagenous
Colitis, Collagenous
Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2187668
rs2187668
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.700 1.000 1 2009 2009