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: rs199472960
rs199472960
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs199473051
rs199473051
2 0.925 0.120 3 38633058 missense variant C/T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs199473103
rs199473103
3 0.925 0.120 3 38606102 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs199473225
rs199473225
6 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs199473317
rs199473317
3 0.882 0.120 3 38551003 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs199473359
rs199473359
1 1.000 0.120 21 34449393 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs199473447
rs199473447
1 1.000 0.120 11 2445412 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs199473507
rs199473507
2 0.925 0.120 7 150952723 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs199473522
rs199473522
3 0.882 0.120 7 150951583 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs199473631
rs199473631
3 0.925 0.120 3 38551085 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs267607277
rs267607277
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs398124647
rs398124647
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs398124650
rs398124650
3 0.882 0.120 2 47161744 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4657139
rs4657139
3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 < 0.001 1 2013 2013
dbSNP: rs554903493
rs554903493
2 1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs770088052
rs770088052
1 1.000 0.120 3 38581182 missense variant C/A;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs780405533
rs780405533
1 1.000 0.120 3 38560221 stop gained C/A;T snv 3.6E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs794728565
rs794728565
3 0.882 0.120 11 2527943 frameshift variant G/- delins 0.700 1.000 1 2009 2009
dbSNP: rs794728879
rs794728879
2 0.925 0.120 3 38560146 splice donor variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs794728530
rs794728530
1 1.000 0.120 11 2768851 stop gained G/T snv 0.700 0
dbSNP: rs794728846
rs794728846
2 0.925 0.120 3 38620972 splice acceptor variant C/T snv 0.700 0
dbSNP: rs12720459
rs12720459
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.040 1.000 4 2005 2015
dbSNP: rs1805128
rs1805128
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs151344631
rs151344631
5 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.700 1.000 4 2008 2015
dbSNP: rs12720458
rs12720458
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 1.000 8 2005 2016