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: rs80338842
rs80338842
3 0.790 0.280 11 112086910 start lost G/A;C snv 0.020 1.000 2 2011 2015
dbSNP: rs1131691061
rs1131691061
4 0.827 0.280 1 17054017 start lost C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs121908814
rs121908814
1 0.925 0.040 2 96265379 start lost C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs587776652
rs587776652
2 0.882 0.200 1 161314408 start lost G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs776485432
rs776485432
2 0.925 0.040 1 161356764 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs80338844
rs80338844
3 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs80338845
rs80338845
4 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.010 1.000 1 2015 2015