Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1143642
rs1143642
2 112830976 intron variant A/G snv 0.89
CUI: C4531177
Disease: Sleep onset Insomnia
Sleep onset Insomnia
0.010 1.000 1 2015 2015
dbSNP: rs3136558
rs3136558
1.000 2 112833698 intron variant A/G snv 0.21
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.010 1.000 1 2015 2015
dbSNP: rs3136558
rs3136558
1.000 2 112833698 intron variant A/G snv 0.21
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2019 2019
dbSNP: rs3136558
rs3136558
1.000 2 112833698 intron variant A/G snv 0.21
CUI: C2062441
Disease: Influenza A
Influenza A
0.010 1.000 1 2015 2015
dbSNP: rs3136558
rs3136558
1.000 2 112833698 intron variant A/G snv 0.21
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs772717932
rs772717932
1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 1.000 1 2007 2007
dbSNP: rs772717932
rs772717932
1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 1.000 1 2007 2007
dbSNP: rs1445888481
rs1445888481
0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 1.000 10 2002 2018
dbSNP: rs1043973338
rs1043973338
0.882 0.080 2 112830483 missense variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs1043973338
rs1043973338
0.882 0.080 2 112830483 missense variant A/C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs1043973338
rs1043973338
0.882 0.080 2 112830483 missense variant A/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2007 2007
dbSNP: rs1445888481
rs1445888481
0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.010 1.000 1 2012 2012
dbSNP: rs3087258
rs3087258
0.925 0.080 2 112837294 upstream gene variant G/A snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.010 1.000 1 2012 2012
dbSNP: rs3087258
rs3087258
0.925 0.080 2 112837294 upstream gene variant G/A snv
CUI: C0497327
Disease: Dementia
Dementia
0.010 1.000 1 2012 2012
dbSNP: rs376289593
rs376289593
1.000 0.080 2 112836202 missense variant C/T snv 1.2E-04 4.9E-05
CUI: C0948908
Disease: Nephrotoxic serum nephritis
Nephrotoxic serum nephritis
0.010 1.000 1 2019 2019
dbSNP: rs538083388
rs538083388
1.000 0.080 2 112833516 synonymous variant G/A snv 2.2E-04 7.0E-05
CUI: C0004096
Disease: Asthma
Asthma
0.010 1.000 1 2011 2011
dbSNP: rs762704392
rs762704392
1.000 0.080 2 112836208 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
0.010 1.000 1 2011 2011
dbSNP: rs2853550
rs2853550
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 1.000 2 2017 2020
dbSNP: rs1143639
rs1143639
1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 1.000 1 2009 2009
dbSNP: rs1143639
rs1143639
1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 1.000 1 2009 2009
dbSNP: rs2853550
rs2853550
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis
0.010 1.000 1 2019 2019
dbSNP: rs2853550
rs2853550
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease
0.010 1.000 1 2016 2016
dbSNP: rs868749744
rs868749744
1.000 0.120 2 112833417 synonymous variant C/T snv
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
0.010 1.000 1 2013 2013
dbSNP: rs1143629
rs1143629
0.882 0.160 2 112835941 intron variant G/A snv 0.60
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding)
0.010 1.000 1 2017 2017
dbSNP: rs1143629
rs1143629
0.882 0.160 2 112835941 intron variant G/A snv 0.60
CUI: C0700613
Disease: Anxiety state
Anxiety state
0.010 1.000 1 2017 2017