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: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.020 1.000 2 2011 2016
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.020 1.000 2 2011 2018
dbSNP: rs333
rs333
0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 1.000 2 2015 2018
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
0.010 1.000 1 2005 2005
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0003165
Disease: Anthracosis
Anthracosis
0.010 1.000 1 2006 2006
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2007 2007
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2011 2011
dbSNP: rs1020608562
rs1020608562
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 1.000 1 2016 2016
dbSNP: rs147879075
rs147879075
1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
0.010 1.000 1 2015 2015
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 1.000 1 2018 2018
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C3887641
Disease: Recurrent hepatitis
Recurrent hepatitis
0.010 1.000 1 2011 2011
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
0.010 1.000 1 2019 2019
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0014057
Disease: Japanese Encephalitis
Japanese Encephalitis
0.010 1.000 1 2019 2019
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0343804
Disease: Chronic Chagas' disease
Chronic Chagas' disease
0.010 1.000 1 2015 2015
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0745744
Disease: End Stage Liver Disease
End Stage Liver Disease
0.010 1.000 1 2011 2011
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
Left ventricular systolic dysfunction
0.010 1.000 1 2015 2015
dbSNP: rs1799987
rs1799987
0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 1.000 1 2012 2012
dbSNP: rs1799988
rs1799988
1.000 0.040 3 46370768 intron variant C/T snv 0.49
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
0.010 1.000 1 2019 2019
dbSNP: rs1800023
rs1800023
1.000 0.040 3 46370817 intron variant A/G snv 0.29
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
0.010 1.000 1 2019 2019
dbSNP: rs1800023
rs1800023
1.000 0.040 3 46370817 intron variant A/G snv 0.29
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs1800024
rs1800024
0.925 0.080 3 46371068 intron variant C/T snv 0.13
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
0.010 1.000 1 2019 2019
dbSNP: rs1800024
rs1800024
0.925 0.080 3 46371068 intron variant C/T snv 0.13
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
0.010 1.000 1 2017 2017