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: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 32 1989 2019
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 30 1989 2019
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.800 1.000 16 2005 2019
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 21 1989 2016
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 11 1989 2016
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.720 1.000 10 1989 2016
dbSNP: rs121913248
rs121913248
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 3 2001 2014
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 13 1989 2014
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1989 2014
dbSNP: rs121434595
rs121434595
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 9 1989 2014