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: rs16906079
rs16906079
9 117712651 missense variant A/G snv 6.5E-04 4.3E-04
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 1.000 1 2006 2006
dbSNP: rs200829864
rs200829864
9 117704494 missense variant G/A;T snv 2.1E-05
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 1.000 1 2010 2010
dbSNP: rs749495848
rs749495848
9 117713210 missense variant A/C;G snv 4.0E-06
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections
0.010 1.000 1 2013 2013
dbSNP: rs749495848
rs749495848
9 117713210 missense variant A/C;G snv 4.0E-06
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder
0.010 1.000 1 2006 2006
dbSNP: rs774024297
rs774024297
1.000 9 117712537 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C2062441
Disease: Influenza A
Influenza A
0.010 1.000 1 2019 2019
dbSNP: rs780935825
rs780935825
9 117713547 synonymous variant C/T snv 1.2E-05
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections
0.010 1.000 1 2013 2013
dbSNP: rs11536879
rs11536879
1.000 0.040 9 117709933 intron variant A/C;G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2019 2019
dbSNP: rs200848339
rs200848339
1.000 0.040 9 117713001 synonymous variant A/G snv 2.4E-05
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 1.000 1 2016 2016
dbSNP: rs5030710
rs5030710
1.000 0.040 9 117712443 synonymous variant T/C snv 1.2E-02 4.7E-02
CUI: C0025007
Disease: Measles
Measles
0.010 1.000 1 2011 2011
dbSNP: rs7037117
rs7037117
0.882 0.040 9 117721385 3 prime UTR variant A/G snv 0.40
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
0.010 1.000 1 2008 2008
dbSNP: rs7037117
rs7037117
0.882 0.040 9 117721385 3 prime UTR variant A/G snv 0.40
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.010 1.000 1 2012 2012
dbSNP: rs7037117
rs7037117
0.882 0.040 9 117721385 3 prime UTR variant A/G snv 0.40
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
0.010 1.000 1 2019 2019
dbSNP: rs778657916
rs778657916
1.000 0.040 9 117713902 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0238013
Disease: Invasive aspergillosis
Invasive aspergillosis
0.010 < 0.001 1 2013 2013
dbSNP: rs1056744559
rs1056744559
1.000 0.080 9 117713974 stop gained C/G;T snv 4.0E-06; 2.8E-05
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.010 1.000 1 2018 2018
dbSNP: rs11536897
rs11536897
0.925 0.080 9 117717732 3 prime UTR variant G/A snv 5.1E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs11536897
rs11536897
0.925 0.080 9 117717732 3 prime UTR variant G/A snv 5.1E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2009 2009
dbSNP: rs11536898
rs11536898
0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs11536898
rs11536898
0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 1.000 1 2012 2012
dbSNP: rs11536898
rs11536898
0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs1347844721
rs1347844721
1.000 0.080 9 117704565 missense variant G/A;C snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 1.000 1 2015 2015
dbSNP: rs1371329921
rs1371329921
0.925 0.080 9 117712993 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.010 1.000 1 2010 2010
dbSNP: rs1371329921
rs1371329921
0.925 0.080 9 117712993 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0238013
Disease: Invasive aspergillosis
Invasive aspergillosis
0.010 1.000 1 2005 2005
dbSNP: rs137853920
rs137853920
0.925 0.080 9 117712970 missense variant G/A snv 2.3E-03 2.3E-03
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.010 1.000 1 2013 2013
dbSNP: rs137853920
rs137853920
0.925 0.080 9 117712970 missense variant G/A snv 2.3E-03 2.3E-03
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.010 1.000 1 2010 2010
dbSNP: rs1420111973
rs1420111973
1.000 0.080 9 117712527 synonymous variant T/C snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2014 2014