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: 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 0.500 2 2017 2020
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: 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: rs3783550
rs3783550
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 1.000 1 2015 2015
dbSNP: rs3783550
rs3783550
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs3783550
rs3783550
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs3783550
rs3783550
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 1.000 1 2017 2017
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: rs2856838
rs2856838
0.851 0.200 2 112782395 intron variant G/A snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs2856838
rs2856838
0.851 0.200 2 112782395 intron variant G/A snv 0.37
CUI: C0024530
Disease: Malaria
Malaria
0.010 1.000 1 2017 2017
dbSNP: rs2856838
rs2856838
0.851 0.200 2 112782395 intron variant G/A snv 0.37
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma
0.010 1.000 1 2017 2017
dbSNP: rs2856838
rs2856838
0.851 0.200 2 112782395 intron variant G/A snv 0.37
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2019 2019
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: 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: 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: 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: 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