Source: ALL
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: rs1011425121
rs1011425121
NEB ; RIF1
1 1.000 0.080 2 151508004 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1037388276
rs1037388276
NEB ; RIF1
1 1.000 0.080 2 151498261 stop gained G/A;T snv 6.4E-06 2.1E-05 0.700 0
dbSNP: rs1057515573
rs1057515573
NEB ; RIF1
1 1.000 0.080 2 151519019 frameshift variant C/- del 0.700 0
dbSNP: rs1057515574
rs1057515574
NEB ; RIF1
1 1.000 0.080 2 151508057 frameshift variant -/AACA delins 7.0E-06 0.700 0
dbSNP: rs1057515575
rs1057515575
NEB ; RIF1
1 1.000 0.080 2 151524310 splice donor variant C/G snv 0.700 0
dbSNP: rs1057516348
rs1057516348
NEB
1 1.000 0.080 2 151650339 frameshift variant CCT/GA delins 0.700 0
dbSNP: rs1057516381
rs1057516381
NEB
1 1.000 0.080 2 151674585 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1057516676
rs1057516676
NEB
1 1.000 0.080 2 151643272 stop gained G/A snv 0.700 0
dbSNP: rs1057516739
rs1057516739
NEB
1 1.000 0.080 2 151695576 splice region variant ATCAC/- delins 0.700 0
dbSNP: rs1057516938
rs1057516938
NEB
1 1.000 0.080 2 151688315 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057517317
rs1057517317
NEB
1 1.000 0.080 2 151663861 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517399
rs1057517399
NEB
1 1.000 0.080 2 151688290 splice donor variant A/G snv 1.4E-05 0.700 0
dbSNP: rs111300270
rs111300270
NEB
1 1.000 0.080 2 151725561 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs112517981
rs112517981
NEB
1 1.000 0.080 2 151671022 splice donor variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs112687345
rs112687345
NEB ; RIF1
1 1.000 0.080 2 151493447 splice acceptor variant T/G snv 0.700 0
dbSNP: rs113290650
rs113290650
NEB ; RIF1
1 1.000 0.080 2 151493869 splice acceptor variant T/A;C;G snv 0.700 0
dbSNP: rs113525641
rs113525641
NEB ; RIF1
1 1.000 0.080 2 151490371 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1180339426
rs1180339426
NEB
1 1.000 0.080 2 151654093 frameshift variant AG/- delins 0.700 0
dbSNP: rs1180407562
rs1180407562
NEB
1 1.000 0.080 2 151640667 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1185654671
rs1185654671
NEB
1 1.000 0.080 2 151545886 splice donor variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1191429915
rs1191429915
NEB ; RIF1
1 1.000 0.080 2 151492097 splice donor variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1197561990
rs1197561990
NEB
3 0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1218073575
rs1218073575
NEB ; RIF1
1 1.000 0.080 2 151497706 stop gained C/A snv 5.1E-06 0.700 0
dbSNP: rs121913662
rs121913662
NEB ; RIF1
1 1.000 0.080 2 151490495 stop gained C/A;G;T snv 4.1E-06; 5.8E-05 0.700 0
dbSNP: rs1220787593
rs1220787593
NEB
1 1.000 0.080 2 151697147 splice donor variant C/T snv 4.0E-06 1.4E-05 0.700 0