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: rs12631819
rs12631819
3 12301362 intron variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 < 0.001 1 2018 2018
dbSNP: rs12633551
rs12633551
3 12318995 intron variant C/T snv 2.8E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2015 2015
dbSNP: rs375411329
rs375411329
3 12379746 missense variant A/G snv 7.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 1.000 1 2009 2009
dbSNP: rs587780424
rs587780424
3 12433975 missense variant A/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.010 1.000 1 2005 2005
dbSNP: rs6802898
rs6802898
3 12349708 intron variant C/T snv 0.27
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2015 2015
dbSNP: rs145566594
rs145566594
1.000 0.040 3 12416950 missense variant A/C;G snv 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2018 2018
dbSNP: rs1797912
rs1797912
1.000 0.040 3 12428740 intron variant A/C snv 0.33
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2014 2014
dbSNP: rs368726572
rs368726572
1.000 0.040 3 12392637 synonymous variant A/G snv 4.0E-06 3.5E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2004 2004
dbSNP: rs7649970
rs7649970
1.000 0.040 3 12350773 intron variant C/T snv 0.14
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 1.000 1 2012 2012
dbSNP: rs772234905
rs772234905
1.000 0.040 3 12379761 missense variant C/G;T snv 4.0E-06 7.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2011 2011
dbSNP: rs951599607
rs951599607
0.925 0.040 3 12434028 missense variant G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2017 2017
dbSNP: rs951599607
rs951599607
0.925 0.040 3 12434028 missense variant G/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs951599607
rs951599607
0.925 0.040 3 12434028 missense variant G/A snv
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.010 1.000 1 2017 2017
dbSNP: rs951599607
rs951599607
0.925 0.040 3 12434028 missense variant G/A snv
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.010 1.000 1 2017 2017
dbSNP: rs72551362
rs72551362
0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.030 1.000 3 2016 2019
dbSNP: rs1151999
rs1151999
1.000 0.080 3 12405654 intron variant G/T snv 0.61
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 1.000 1 2011 2011
dbSNP: rs121909245
rs121909245
0.925 0.080 3 12392701 missense variant T/A snv
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy
0.010 1.000 1 2007 2007
dbSNP: rs12629293
rs12629293
1.000 0.080 3 12310247 intron variant A/G snv 0.25
Diabetes Mellitus, Non-Insulin-Dependent
0.010 1.000 1 2013 2013
dbSNP: rs12636454
rs12636454
1.000 0.080 3 12318715 intron variant T/C snv 0.27
Diabetes Mellitus, Non-Insulin-Dependent
0.010 1.000 1 2013 2013
dbSNP: rs13073869
rs13073869
0.882 0.080 3 12312494 intron variant G/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2008 2008
dbSNP: rs13073869
rs13073869
0.882 0.080 3 12312494 intron variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2008 2008
dbSNP: rs13073869
rs13073869
0.882 0.080 3 12312494 intron variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2008 2008
dbSNP: rs1440763451
rs1440763451
0.882 0.080 3 12416849 missense variant A/G snv 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 1.000 1 2016 2016
dbSNP: rs1440763451
rs1440763451
0.882 0.080 3 12416849 missense variant A/G snv 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 1.000 1 2016 2016
dbSNP: rs1440763451
rs1440763451
0.882 0.080 3 12416849 missense variant A/G snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2016 2016