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: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.100 0.708 24 2002 2019
dbSNP: rs627928
rs627928
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.080 0.875 8 2004 2019
dbSNP: rs74315364
rs74315364
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.030 1.000 3 2004 2005
dbSNP: rs1360698171
rs1360698171
4 0.851 0.080 1 182584103 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs143544690
rs143544690
2 0.925 0.080 1 182585927 missense variant T/C snv 3.5E-04 1.4E-03 0.010 1.000 1 2008 2008
dbSNP: rs56250729
rs56250729
2 0.925 0.080 1 182586518 missense variant T/C;G snv 2.8E-05; 6.6E-03 0.010 1.000 1 2011 2011