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: rs121907892
rs121907892
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.040 1.000 4 2008 2019
dbSNP: rs121907896
rs121907896
5 0.851 0.200 11 64591825 missense variant G/A snv 1.8E-04 8.4E-05 0.030 1.000 3 2008 2019
dbSNP: rs121908321
rs121908321
3 0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 8.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs763684449
rs763684449
3 0.925 0.200 11 64600799 missense variant C/A;T snv 9.4E-05 0.020 1.000 2 2011 2014
dbSNP: rs121908322
rs121908322
2 1.000 0.160 4 9980681 missense variant G/A snv 3.2E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1451506414
rs1451506414
4 0.882 0.200 11 64598561 synonymous variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs753482595
rs753482595
3 0.925 0.200 4 9920389 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs773677616
rs773677616
2 1.000 0.200 11 64600770 missense variant G/A;C;T snv 4.9E-05 0.010 1.000 1 2004 2004