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: rs104893837
rs104893837
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.820 1.000 21 1997 2017
dbSNP: rs104893836
rs104893836
7 0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03 0.820 1.000 19 1997 2014
dbSNP: rs28933074
rs28933074
1 1.000 0.040 4 67740616 missense variant T/C snv 4.0E-06 1.4E-05 0.810 1.000 13 1997 2014
dbSNP: rs104893842
rs104893842
2 0.925 0.040 4 67753920 missense variant C/T snv 1.4E-04 2.1E-04 0.800 1.000 19 1997 2015
dbSNP: rs104893838
rs104893838
1 1.000 0.040 4 67753950 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05 0.800 1.000 12 1997 2014
dbSNP: rs104893839
rs104893839
1 1.000 0.040 4 67744659 missense variant G/T snv 0.800 1.000 12 1997 2014
dbSNP: rs104893840
rs104893840
1 1.000 0.040 4 67753832 missense variant A/T snv 0.800 1.000 12 1997 2014
dbSNP: rs104893843
rs104893843
2 0.925 0.040 4 67754306 missense variant A/T snv 1.3E-04 6.3E-05 0.800 1.000 12 1997 2014
dbSNP: rs104893844
rs104893844
4 0.882 0.160 4 67754068 missense variant C/T snv 3.6E-05 7.0E-06 0.800 1.000 12 1997 2014
dbSNP: rs74452732
rs74452732
4 0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06 0.800 1.000 12 1997 2014
dbSNP: rs1391808526
rs1391808526
1 1.000 0.040 4 67754089 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 12 1997 2014
dbSNP: rs144900788
rs144900788
1 1.000 0.040 4 67753900 missense variant G/A;T snv 1.3E-03 0.700 1.000 12 1997 2014
dbSNP: rs148499544
rs148499544
3 0.882 0.160 4 67740670 missense variant A/C snv 8.0E-06 5.6E-05 0.700 1.000 12 1997 2014
dbSNP: rs886907903
rs886907903
1 1.000 0.040 4 67754226 missense variant A/C snv 0.700 1.000 12 1997 2014
dbSNP: rs515726219
rs515726219
1 1.000 0.040 4 67754242 splice donor variant T/C snv 3.6E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs104893841
rs104893841
1 1.000 0.040 4 67740526 stop gained A/T snv 0.700 0
dbSNP: rs104893847
rs104893847
1 1.000 0.040 4 67740508 missense variant G/A snv 0.700 0
dbSNP: rs281865427
rs281865427
1 1.000 0.040 4 67754305 missense variant GA/TT mnv 0.700 0
dbSNP: rs727505367
rs727505367
2 1.000 0.040 4 67753986 missense variant A/C snv 1.4E-05 0.700 0
dbSNP: rs774317793
rs774317793
1 1.000 0.040 4 67754283 missense variant T/C snv 1.9E-04 2.1E-05 0.700 0
dbSNP: rs797044452
rs797044452
1 1.000 0.040 4 67744788 splice acceptor variant C/T snv 0.700 0