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: rs1553548018
rs1553548018
NEB ; RIF1
1 1.000 0.080 2 151496951 frameshift variant TTTTCTT/- del 0.700 0
dbSNP: rs747564597
rs747564597
NEB ; RIF1
1 1.000 0.080 2 151497656 frameshift variant TTTC/-;TTTCTTTC delins 9.7E-06 4.2E-05 0.700 1.000 2 2014 2016
dbSNP: rs1553603933
rs1553603933
NEB
1 1.000 0.080 2 151695678 splice acceptor variant TTTAACT/- del 0.700 0
dbSNP: rs1553886582
rs1553886582
NEB
1 1.000 0.080 2 151610758 splice donor variant TTACTT/- del 0.700 0
dbSNP: rs1357811155
rs1357811155
NEB ; RIF1
1 1.000 0.080 2 151493807 frameshift variant TT/- delins 1.4E-05 0.700 0
dbSNP: rs752582527
rs752582527
NEB ; RIF1
1 1.000 0.080 2 151496970 frameshift variant TCTC/-;TC delins 0.700 0
dbSNP: rs776059611
rs776059611
NEB ; RIF1
1 1.000 0.080 2 151493382 frameshift variant TC/- delins 8.1E-06 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs767772838
rs767772838
NEB ; RIF1
1 1.000 0.080 2 151527578 splice acceptor variant TAGTCCAGCTGTTTTTAACAG/- del 4.1E-06 7.0E-06 0.700 0
dbSNP: rs756384471
rs756384471
NEB ; RIF1
1 1.000 0.080 2 151501442 frameshift variant TAGG/- delins 6.5E-06 7.7E-05 0.700 1.000 1 2014 2014
dbSNP: rs1553770146
rs1553770146
NEB
1 1.000 0.080 2 151565145 splice acceptor variant TACCT/- delins 0.700 0
dbSNP: rs1159756073
rs1159756073
NEB
1 1.000 0.080 2 151678053 frameshift variant TA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1553601066
rs1553601066
NEB
1 1.000 0.080 2 151694416 frameshift variant TA/- delins 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: rs1553512813
rs1553512813
NEB
1 1.000 0.080 2 151671231 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1553891733
rs1553891733
NEB
1 1.000 0.080 2 151612391 splice acceptor variant T/G snv 0.700 0
dbSNP: rs761232641
rs761232641
NEB ; RIF1
1 1.000 0.080 2 151525975 missense variant T/G snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs866309952
rs866309952
NEB ; RIF1
1 1.000 0.080 2 151491777 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1553469514
rs1553469514
NEB
1 1.000 0.080 2 151658092 splice acceptor variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs375145370
rs375145370
NEB
1 1.000 0.080 2 151630821 splice acceptor variant T/C snv 2.4E-05 4.2E-05 0.700 1.000 3 2012 2017
dbSNP: rs1342507012
rs1342507012
NEB
1 1.000 0.080 2 151674586 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1057517317
rs1057517317
NEB
1 1.000 0.080 2 151663861 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1389892619
rs1389892619
NEB ; RIF1
1 1.000 0.080 2 151527587 splice acceptor variant T/C snv 4.1E-06 0.700 0
dbSNP: rs1553580540
rs1553580540
NEB
1 1.000 0.080 2 151690827 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553603958
rs1553603958
NEB
1 1.000 0.080 2 151695684 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553607505
rs1553607505
NEB
1 1.000 0.080 2 151697254 splice acceptor variant T/C snv 0.700 0