Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852671
rs137852671
10 0.790 0.160 11 17394295 missense variant C/T snv 0.030 1.000 3 2003 2013
dbSNP: rs757110
rs757110
6 0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06 0.020 1.000 2 2007 2015
dbSNP: rs1272388614
rs1272388614
5 0.851 0.080 11 17395658 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1285524167
rs1285524167
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs148529020
rs148529020
2 1.000 0.040 11 17460613 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1799854
rs1799854
3 0.925 0.080 11 17427157 splice region variant G/A snv 0.44 0.37 0.010 < 0.001 1 2009 2009
dbSNP: rs28938469
rs28938469
3 0.925 0.160 11 17395659 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs756823374
rs756823374
2 1.000 0.040 11 17463515 missense variant G/A snv 1.4E-05 0.010 1.000 1 2020 2020