Source: ALL

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: rs113129609
rs113129609
0.925 0.080 2 112778091 missense variant A/G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 < 0.001 1 2003 2003
dbSNP: rs1516792
rs1516792
0.925 0.080 2 112778356 intron variant G/A snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 1.000 1 2003 2003
dbSNP: rs1516792
rs1516792
0.925 0.080 2 112778356 intron variant G/A snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2003 2003
dbSNP: rs16347
rs16347
0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2003 2003
dbSNP: rs16347
rs16347
0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 1.000 1 2003 2003
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2007 2007
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2008 2008
dbSNP: rs2071374
rs2071374
1.000 0.120 2 112779775 intron variant T/G snv 0.27
Systemic onset juvenile chronic arthritis
0.010 1.000 1 2008 2008
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 0.667 3 2009 2013
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 1.000 2 2009 2014
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2009 2009
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
0.020 1.000 2 2010 2015
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 1.000 2 2010 2018
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.010 1.000 1 2010 2010
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 < 0.001 1 2010 2010
dbSNP: rs2071373
rs2071373
1.000 2 112782507 intron variant G/A snv 0.74
CUI: C0741975
Disease: carotid disease
carotid disease
0.010 1.000 1 2010 2010
dbSNP: rs2856836
rs2856836
0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2010 2010
dbSNP: rs2856836
rs2856836
0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2010 2010
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.030 1.000 3 2011 2019
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 1.000 2 2011 2013
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss
0.010 1.000 1 2011 2011