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: rs5491
rs5491
0.827 0.160 19 10274864 missense variant A/G;T snv 4.0E-06; 2.8E-02
MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding)
0.700 0
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 < 0.001 2 2007 2013
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 < 0.001 2 2007 2013
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 < 0.001 1 2015 2015
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.010 < 0.001 1 2004 2004
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 < 0.001 1 2015 2015
dbSNP: rs281432
rs281432
0.851 0.280 19 10279982 intron variant C/G snv 0.52
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 < 0.001 1 2016 2016
dbSNP: rs281432
rs281432
0.851 0.280 19 10279982 intron variant C/G snv 0.52
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 < 0.001 1 2016 2016
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
Chronic thromboembolic pulmonary hypertension
0.010 < 0.001 1 2019 2019
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 < 0.001 1 2015 2015
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
Congenital atresia of extrahepatic bile duct
0.010 < 0.001 1 2005 2005
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2013 2013
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
0.010 < 0.001 1 2005 2005
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.010 < 0.001 1 2004 2004
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2013 2013
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 < 0.001 1 2015 2015
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0022346
Disease: Icterus
Icterus
0.010 < 0.001 1 2005 2005
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.030 0.333 3 2003 2018
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.060 0.500 6 2006 2018
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.040 0.500 4 2003 2016
dbSNP: rs1799969
rs1799969
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.020 0.500 2 2011 2016
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 0.500 2 2003 2005
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 0.500 2 2003 2003
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.020 0.500 2 2001 2015
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 0.500 2 2013 2015