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: rs1057519991
rs1057519991
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs764146326
rs764146326
25 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs786203436
rs786203436
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs876659477
rs876659477
3 0.882 0.040 17 7673730 missense variant T/C snv 0.010 1.000 1 2003 2003