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: rs10477191
rs10477191
5 142698150 upstream gene variant A/G snv 0.22
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2019 2019
dbSNP: rs34000
rs34000
5 142593936 3 prime UTR variant T/C snv 0.46
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2019 2019
dbSNP: rs152528
rs152528
5 142638295 intron variant C/T snv 0.28
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
0.700 1.000 1 2011 2011
dbSNP: rs152528
rs152528
5 142638295 intron variant C/T snv 0.28
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
0.700 1.000 1 2011 2011
dbSNP: rs2070715
rs2070715
1.000 5 142644691 intron variant T/C;G snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
0.700 1.000 1 2019 2019
dbSNP: rs2070715
rs2070715
1.000 5 142644691 intron variant T/C;G snv
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
0.700 1.000 1 2019 2019
dbSNP: rs2070715
rs2070715
1.000 5 142644691 intron variant T/C;G snv
CUI: C0376705
Disease: Viral Load result
Viral Load result
0.700 1.000 1 2019 2019
dbSNP: rs2070715
rs2070715
1.000 5 142644691 intron variant T/C;G snv
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.700 1.000 1 2019 2019
dbSNP: rs2070715
rs2070715
1.000 5 142644691 intron variant T/C;G snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
0.700 1.000 1 2019 2019
dbSNP: rs250100
rs250100
5 142605814 intron variant T/C snv 0.90
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs152524
rs152524
5 142612824 intron variant A/G snv 0.48
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2007 2007
dbSNP: rs2282794
rs2282794
1.000 0.040 5 142602144 intron variant G/A snv 6.9E-02
Attention deficit hyperactivity disorder
0.010 1.000 1 2019 2019
dbSNP: rs250108
rs250108
0.925 5 142614908 intron variant G/A snv 0.24
estrogen receptor-negative breast cancer
0.010 1.000 1 2013 2013
dbSNP: rs250108
rs250108
0.925 5 142614908 intron variant G/A snv 0.24
Oestrogen receptor positive breast cancer
0.010 1.000 1 2013 2013
dbSNP: rs34011
rs34011
1.000 0.080 5 142615512 intron variant G/A snv 0.30
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 1.000 1 2014 2014
dbSNP: rs7727832
rs7727832
0.882 0.120 5 142611975 intron variant C/T snv 0.10
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 1.000 1 2014 2014
dbSNP: rs7727832
rs7727832
0.882 0.120 5 142611975 intron variant C/T snv 0.10
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 1.000 1 2014 2014
dbSNP: rs7727832
rs7727832
0.882 0.120 5 142611975 intron variant C/T snv 0.10
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 1.000 1 2014 2014