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: rs1357452519
rs1357452519
NEB ; RIF1
1 1.000 0.080 2 151489969 splice donor variant -/TCCAT ins 7.0E-06 0.700 0
dbSNP: rs1553518813
rs1553518813
NEB ; RIF1
1 1.000 0.080 2 151489969 splice donor variant A/T snv 0.700 0
dbSNP: rs1553519124
rs1553519124
NEB ; RIF1
1 1.000 0.080 2 151490035 stop gained G/T snv 0.700 0
dbSNP: rs200731870
rs200731870
NEB ; RIF1
1 1.000 0.080 2 151490039 stop gained G/A snv 3.2E-05 3.5E-05 0.700 1.000 1 2014 2014
dbSNP: rs1553519860
rs1553519860
NEB ; RIF1
1 1.000 0.080 2 151490370 splice donor variant A/- del 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: rs1553520266
rs1553520266
NEB ; RIF1
1 1.000 0.080 2 151490455 frameshift variant C/- delins 0.700 0
dbSNP: rs747179265
rs747179265
NEB ; RIF1
1 1.000 0.080 2 151490486 stop gained G/A snv 8.3E-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: rs1553520609
rs1553520609
NEB ; RIF1
1 1.000 0.080 2 151490519 splice acceptor variant C/A snv 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: 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: rs1553526619
rs1553526619
NEB ; RIF1
1 1.000 0.080 2 151492143 stop gained C/TA delins 0.700 0
dbSNP: rs1553526832
rs1553526832
NEB ; RIF1
1 1.000 0.080 2 151492156 frameshift variant CTGA/TTGAAT delins 0.700 0
dbSNP: rs1553530144
rs1553530144
NEB ; RIF1
1 1.000 0.080 2 151492493 splice acceptor variant ACCTGATGCAG/- del 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: rs1559154278
rs1559154278
NEB ; RIF1
1 1.000 0.080 2 151493431 frameshift variant C/- del 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: rs794727136
rs794727136
NEB ; RIF1
1 1.000 0.080 2 151493781 frameshift variant AA/-;A delins 2.0E-05 0.700 1.000 1 2015 2015
dbSNP: rs1357811155
rs1357811155
NEB ; RIF1
1 1.000 0.080 2 151493807 frameshift variant TT/- delins 1.4E-05 0.700 0
dbSNP: rs1553536267
rs1553536267
NEB ; RIF1
1 1.000 0.080 2 151493810 stop gained C/A snv 0.700 0
dbSNP: rs754272530
rs754272530
NEB ; RIF1
1 1.000 0.080 2 151493859 stop gained G/C;T snv 2.2E-05 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: rs202048855
rs202048855
NEB ; RIF1
1 1.000 0.080 2 151494161 splice region variant C/G;T snv 8.6E-06; 3.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs1553537512
rs1553537512
NEB ; RIF1
1 1.000 0.080 2 151494184 frameshift variant -/TT delins 0.700 0