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: rs370124822
rs370124822
2 1.000 0.120 1 45333513 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs376561094
rs376561094
2 1.000 0.120 1 45332636 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs558173961
rs558173961
1 1.000 0.120 1 45332049 stop gained G/A;T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs587780088
rs587780088
5 0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs587781704
rs587781704
2 1.000 0.120 1 45334457 frameshift variant C/- del 2.0E-05 0.700 0
dbSNP: rs587782730
rs587782730
2 1.000 0.120 1 45332916 splice donor variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs746449748
rs746449748
3 0.925 0.120 1 45333561 splice acceptor variant C/- delins 1.6E-05 0.700 0
dbSNP: rs766420907
rs766420907
2 1.000 0.120 1 45331503 stop gained G/A snv 6.0E-05 0.700 0
dbSNP: rs768386527
rs768386527
2 1.000 0.120 1 45334463 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs786202133
rs786202133
1 1.000 0.120 1 45331316 missense variant G/C snv 0.700 0
dbSNP: rs786203115
rs786203115
3 0.925 0.120 1 45332300 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs786203213
rs786203213
2 1.000 0.120 1 45333315 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs863224452
rs863224452
1 1.000 0.120 1 45333172 splice acceptor variant T/C snv 0.700 0
dbSNP: rs863224501
rs863224501
4 0.925 0.160 1 45331519 frameshift variant TCACGGACGGG/- delins 2.1E-05 0.700 0
dbSNP: rs863224502
rs863224502
3 0.882 0.160 1 45331184 stop gained T/A snv 1.4E-05 0.700 0
dbSNP: rs876660787
rs876660787
2 1.000 0.120 1 45332959 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs878854189
rs878854189
1 1.000 0.120 1 45333427 frameshift variant -/T delins 0.700 0
dbSNP: rs1553130185
rs1553130185
2 1.000 0.120 1 45333453 stop gained C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs745921592
rs745921592
2 1.000 0.120 1 45332678 stop gained C/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs761468459
rs761468459
2 1.000 0.120 1 45332240 frameshift variant C/- delins 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1553125243
rs1553125243
2 1.000 0.120 1 45331302 frameshift variant T/- del 0.700 1.000 1 2007 2007
dbSNP: rs376790729
rs376790729
3 0.925 0.120 1 45331223 stop gained C/A;T snv 4.0E-06; 3.6E-05 0.700 1.000 1 2007 2007
dbSNP: rs1057517765
rs1057517765
1 1.000 0.120 1 45332466 missense variant T/C;G snv 0.800 1.000 3 2008 2009
dbSNP: rs587782885
rs587782885
3 0.925 0.120 1 45332440 stop gained G/A;C snv 4.0E-06 0.700 1.000 3 2005 2009
dbSNP: rs199989617
rs199989617
2 1.000 0.120 1 45332574 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2009 2009