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: 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: rs1894399
rs1894399
0.925 0.040 2 112782600 intron variant C/T snv 0.32
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 1.000 2 2012 2012
dbSNP: rs1800794
rs1800794
1.000 0.040 2 112785696 upstream gene variant G/A snv 0.22
CUI: C0041228
Disease: African Trypanosomiasis
African Trypanosomiasis
0.010 1.000 1 2019 2019
dbSNP: rs1894399
rs1894399
0.925 0.040 2 112782600 intron variant C/T snv 0.32
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis
0.010 1.000 1 2012 2012
dbSNP: rs3783525
rs3783525
1.000 0.040 2 112784242 intron variant T/A;C snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 1.000 1 2015 2015
dbSNP: rs113129609
rs113129609
0.925 0.080 2 112778091 missense variant A/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 1.000 1 2015 2015
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: rs2071375
rs2071375
1.000 0.080 2 112777861 intron variant C/T snv 0.26
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 1.000 1 2012 2012
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: rs3783546
rs3783546
0.882 0.160 2 112777253 intron variant G/C snv 0.70
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 0.500 2 2017 2020
dbSNP: rs1609682
rs1609682
0.882 0.160 2 112782628 intron variant G/T snv 0.70
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1609682
rs1609682
0.882 0.160 2 112782628 intron variant G/T snv 0.70
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1609682
rs1609682
0.882 0.160 2 112782628 intron variant G/T snv 0.70
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs3783546
rs3783546
0.882 0.160 2 112777253 intron variant G/C snv 0.70
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs3783546
rs3783546
0.882 0.160 2 112777253 intron variant G/C snv 0.70
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs3783546
rs3783546
0.882 0.160 2 112777253 intron variant G/C snv 0.70
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2019 2019
dbSNP: rs3783546
rs3783546
0.882 0.160 2 112777253 intron variant G/C snv 0.70
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1304037
rs1304037
0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.030 1.000 3 2013 2020
dbSNP: rs3783550
rs3783550
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 0.500 2 2017 2020
dbSNP: rs1304037
rs1304037
0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
0.010 1.000 1 2017 2017
dbSNP: rs1304037
rs1304037
0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.010 1.000 1 2017 2017