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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2006 2006
dbSNP: rs121908119
rs121908119
10 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 < 0.001 1 2016 2016
dbSNP: rs121909635
rs121909635
6 0.827 0.240 8 38426158 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
7 0.827 0.240 8 38414569 stop gained G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs267606805
rs267606805
5 0.851 0.240 8 38414173 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
5 0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs3811046
rs3811046
5 0.851 0.160 2 112913801 missense variant G/A;T snv 4.0E-06; 0.71 0.010 1.000 1 2018 2018