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: rs11557467
rs11557467
0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
0.700 1.000 1 2007 2007
dbSNP: rs11557467
rs11557467
0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45
CUI: C0004096
Disease: Asthma
Asthma
0.710 1.000 2 2010 2011
dbSNP: rs12150079
rs12150079
0.807 0.280 17 39869164 intron variant G/A snv 0.24
CUI: C0004096
Disease: Asthma
Asthma
0.700 1.000 2 2010 2011
dbSNP: rs1054609
rs1054609
0.925 0.160 17 39877024 3 prime UTR variant A/C snv 0.40
CUI: C0004096
Disease: Asthma
Asthma
0.700 1.000 1 2011 2011
dbSNP: rs11078925
rs11078925
0.925 0.160 17 39868955 intron variant T/C snv 0.36
CUI: C0004096
Disease: Asthma
Asthma
0.700 1.000 1 2011 2011
dbSNP: rs11557466
rs11557466
0.925 0.160 17 39868373 synonymous variant C/T snv 0.40 0.36
CUI: C0004096
Disease: Asthma
Asthma
0.700 1.000 1 2011 2011
dbSNP: rs11870965
rs11870965
0.925 0.160 17 39873952 intron variant T/A snv 0.40
CUI: C0004096
Disease: Asthma
Asthma
0.700 1.000 1 2011 2011
dbSNP: rs189660050
rs189660050
1.000 0.040 17 39870781 missense variant C/T snv 2.8E-05 1.9E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.010 1.000 1 2011 2011
dbSNP: rs11557467
rs11557467
0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 2 2012 2012
dbSNP: rs12936231
rs12936231
0.925 0.160 17 39872867 intron variant C/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 2 2012 2012
dbSNP: rs1054609
rs1054609
0.925 0.160 17 39877024 3 prime UTR variant A/C snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs10852935
rs10852935
1.000 0.080 17 39875421 synonymous variant C/T snv 0.40 0.35
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs10852936
rs10852936
0.925 0.120 17 39875461 intron variant C/T snv 0.39 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs11078925
rs11078925
0.925 0.160 17 39868955 intron variant T/C snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs11557466
rs11557466
0.925 0.160 17 39868373 synonymous variant C/T snv 0.40 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs11650661
rs11650661
1.000 0.080 17 39870033 intron variant A/C;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs11870965
rs11870965
0.925 0.160 17 39873952 intron variant T/A snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs12709365
rs12709365
1.000 0.080 17 39871147 intron variant A/G snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs13380815
rs13380815
1.000 0.080 17 39871330 intron variant A/G snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs34189114
rs34189114
1.000 0.080 17 39876207 intron variant C/T snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs35736272
rs35736272
0.807 0.160 17 39876427 intron variant T/C snv 0.35
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs36095411
rs36095411
1.000 0.080 17 39875612 intron variant T/A;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs4795397
rs4795397
0.925 0.160 17 39867492 upstream gene variant A/G snv 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs9891174
rs9891174
1.000 0.080 17 39875549 intron variant T/A snv 0.39
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs9903250
rs9903250
1.000 0.080 17 39874777 intron variant G/A snv 0.43
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012