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: rs104894498
rs104894498
1 1.000 0.200 15 55223967 missense variant A/G snv 0.800 1.000 4 2000 2005
dbSNP: rs104894499
rs104894499
1 1.000 0.200 15 55223902 missense variant C/G;T snv 4.0E-06 0.800 1.000 4 2000 2005
dbSNP: rs28938176
rs28938176
1 1.000 0.200 15 55230423 missense variant A/C snv 0.800 0
dbSNP: rs200956636
rs200956636
5 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 1.000 7 2000 2014
dbSNP: rs104894497
rs104894497
1 1.000 0.200 15 55228693 missense variant C/G;T snv 1.2E-04; 3.2E-05 0.700 1.000 3 2006 2016
dbSNP: rs756071120
rs756071120
1 1.000 0.200 15 55223888 splice donor variant C/G snv 4.0E-06 0.700 1.000 3 2000 2013
dbSNP: rs753966933
rs753966933
1 1.000 0.200 15 55228708 missense variant G/A snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs104894500
rs104894500
3 0.882 0.200 15 55224004 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs141281020
rs141281020
1 1.000 0.200 15 55234933 start lost A/G snv 0.700 0
dbSNP: rs1555394745
rs1555394745
1 1.000 0.200 15 55234916 stop gained CA/- del 0.700 0
dbSNP: rs767481076
rs767481076
1 1.000 0.200 15 55205655 frameshift variant GGCTT/- delins 2.4E-05 3.5E-05 0.700 0