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: rs981804211
rs981804211
1 1.000 0.120 14 67798080 stop gained G/A;T snv 7.0E-06 0.700 1.000 2 2009 2015
dbSNP: rs768176054
rs768176054
1 1.000 0.120 14 67793711 frameshift variant A/- delins 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs941230062
rs941230062
1 1.000 0.120 14 67794234 stop gained G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs118204050
rs118204050
1 1.000 0.120 14 67802241 stop gained G/A snv 0.700 0
dbSNP: rs1470672632
rs1470672632
1 1.000 0.120 14 67786235 splice acceptor variant T/C snv 8.1E-06 0.700 0
dbSNP: rs1555393005
rs1555393005
1 1.000 0.120 14 67751050 splice donor variant A/G snv 0.700 0
dbSNP: rs1555393181
rs1555393181
1 1.000 0.120 14 67752343 splice donor variant C/T snv 0.700 0
dbSNP: rs1555393338
rs1555393338
1 1.000 0.120 14 67753706 splice donor variant C/T snv 0.700 0
dbSNP: rs1555393393
rs1555393393
1 1.000 0.120 14 67754213 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555394824
rs1555394824
1 1.000 0.120 14 67766231 frameshift variant -/A delins 0.700 0
dbSNP: rs1555395288
rs1555395288
1 1.000 0.120 14 67769732 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555395524
rs1555395524
1 1.000 0.120 14 67772046 splice donor variant C/A snv 0.700 0
dbSNP: rs1555395525
rs1555395525
1 1.000 0.120 14 67772046 splice donor variant C/- delins 0.700 0
dbSNP: rs1555395560
rs1555395560
1 1.000 0.120 14 67772212 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555396303
rs1555396303
1 1.000 0.120 14 67777736 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555397310
rs1555397310
1 1.000 0.120 14 67784333 splice donor variant C/G snv 0.700 0
dbSNP: rs1555397331
rs1555397331
1 1.000 0.120 14 67784438 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555397638
rs1555397638
1 1.000 0.120 14 67786234 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555398241
rs1555398241
1 1.000 0.120 14 67790702 frameshift variant T/- delins 0.700 0
dbSNP: rs1555398778
rs1555398778
1 1.000 0.120 14 67794170 splice donor variant C/A snv 0.700 0
dbSNP: rs1555399278
rs1555399278
1 1.000 0.120 14 67798012 splice donor variant A/G snv 0.700 0
dbSNP: rs1555399288
rs1555399288
1 1.000 0.120 14 67798040 frameshift variant T/- delins 0.700 0
dbSNP: rs1555399289
rs1555399289
1 1.000 0.120 14 67798064 inframe deletion AAC/- delins 0.700 0
dbSNP: rs868672014
rs868672014
1 1.000 0.120 14 67767779 frameshift variant T/- del 1.4E-05 0.700 0
dbSNP: rs869312914
rs869312914
2 1.000 0.120 14 67752520 stop gained G/A snv 0.700 0