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: rs1015798796
rs1015798796
3 0.882 0.160 20 46725684 stop gained C/G snv 1.4E-05 0.700 0
dbSNP: rs193922153
rs193922153
2 0.925 0.040 17 50189173 missense variant G/A snv 1.5E-04 1.8E-04 0.700 0
dbSNP: rs730880147
rs730880147
1 1.000 16 15726938 inframe deletion CTT/- delins 4.8E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1555459260
rs1555459260
2 0.925 0.040 16 15838252 start lost T/C snv 0.700 0
dbSNP: rs267606902
rs267606902
2 0.925 0.080 16 15748092 missense variant C/T snv 0.700 0
dbSNP: rs794728677
rs794728677
1 1.000 16 15721419 splice donor variant -/A delins 0.700 0
dbSNP: rs727503057
rs727503057
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 1.000 13 1973 2015
dbSNP: rs111401431
rs111401431
9 0.763 0.200 15 48468097 missense variant G/A snv 0.700 1.000 12 2000 2016
dbSNP: rs1555395663
rs1555395663
2 0.925 0.160 15 48444648 missense variant C/T snv 0.700 1.000 11 1973 2008
dbSNP: rs1555399968
rs1555399968
2 0.925 0.160 15 48508660 missense variant A/C snv 0.700 1.000 10 1973 2015
dbSNP: rs1566935517
rs1566935517
2 0.925 0.160 15 48600195 missense variant C/T snv 0.700 1.000 10 1973 2012
dbSNP: rs397515786
rs397515786
2 0.925 0.160 15 48488412 missense variant C/T snv 0.700 1.000 10 1973 2007
dbSNP: rs1064794282
rs1064794282
2 0.925 0.160 15 48497316 missense variant C/T snv 0.700 1.000 9 2002 2018
dbSNP: rs140593
rs140593
2 0.925 0.160 15 48489896 missense variant C/G;T snv 0.700 1.000 9 1995 2011
dbSNP: rs147195031
rs147195031
3 0.882 0.160 15 48420780 missense variant G/A snv 0.700 1.000 9 1973 2016
dbSNP: rs1555397421
rs1555397421
2 0.925 0.160 15 48470745 missense variant A/G;T snv 0.700 1.000 9 1973 2014
dbSNP: rs1555399271
rs1555399271
2 0.925 0.160 15 48496177 missense variant C/T snv 0.700 1.000 9 1973 2015
dbSNP: rs1555405044
rs1555405044
2 0.925 0.160 15 48600181 missense variant A/G snv 0.700 1.000 9 1973 2015
dbSNP: rs1566899500
rs1566899500
2 0.925 0.160 15 48448773 missense variant C/A snv 0.700 1.000 9 1973 2010
dbSNP: rs794728240
rs794728240
2 0.925 0.160 15 48445492 missense variant C/G;T snv 0.700 1.000 9 1973 2015
dbSNP: rs1060501021
rs1060501021
2 0.925 0.160 15 48494210 missense variant A/G snv 0.700 1.000 8 2002 2015
dbSNP: rs1060501055
rs1060501055
2 0.925 0.160 15 48421997 missense variant A/C snv 0.700 1.000 8 1973 2016
dbSNP: rs112728248
rs112728248
2 0.925 0.160 15 48448812 missense variant C/T snv 0.700 1.000 8 1973 2012
dbSNP: rs140603
rs140603
2 0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04 0.700 1.000 8 2000 2016
dbSNP: rs1555395486
rs1555395486
2 0.925 0.160 15 48441835 missense variant A/G snv 0.700 1.000 8 1973 2015