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: rs1057517360
rs1057517360
NEB
1 1.000 0.080 2 151724952 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1057517977
rs1057517977
NEB
1 1.000 0.080 2 151636283 stop gained G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs112544116
rs112544116
NEB
1 1.000 0.080 2 151565715 splice donor variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs112610938
rs112610938
NEB ; RIF1
1 1.000 0.080 2 151514316 splice donor variant A/G;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs113091511
rs113091511
NEB
1 1.000 0.080 2 151682661 splice donor variant C/G;T snv 4.1E-06 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs113326313
rs113326313
NEB
1 1.000 0.080 2 151680023 splice acceptor variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1159756073
rs1159756073
NEB
1 1.000 0.080 2 151678053 frameshift variant TA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1255445731
rs1255445731
NEB
1 1.000 0.080 2 151633653 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1257495033
rs1257495033
NEB ; RIF1
2 0.925 0.080 2 151496977 frameshift variant -/ATCT delins 4.9E-06; 4.9E-06 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs1266535163
rs1266535163
NEB ; RIF1
1 1.000 0.080 2 151498289 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
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: rs1371849916
rs1371849916
NEB
1 1.000 0.080 2 151567480 splice acceptor variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1373493309
rs1373493309
NEB
1 1.000 0.080 2 151644127 stop gained G/A;C snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1421095081
rs1421095081
NEB ; RIF1
1 1.000 0.080 2 151496369 splice acceptor variant C/T snv 4.2E-06 0.700 1.000 1 2016 2016
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: rs1553548207
rs1553548207
NEB ; RIF1
1 1.000 0.080 2 151496962 frameshift variant -/TTTG delins 0.700 1.000 1 2014 2014
dbSNP: rs1553548666
rs1553548666
NEB
1 1.000 0.080 2 151682685 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1553603400
rs1553603400
NEB ; RIF1
1 1.000 0.080 2 151508034 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1553603437
rs1553603437
NEB
1 1.000 0.080 2 151695576 splice donor variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1553603690
rs1553603690
NEB ; RIF1
1 1.000 0.080 2 151508078 frameshift variant A/- del 0.700 1.000 1 2014 2014
dbSNP: rs1553605553
rs1553605553
NEB
1 1.000 0.080 2 151696636 splice donor variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1553642332
rs1553642332
NEB ; RIF1
1 1.000 0.080 2 151524617 splice acceptor variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1553646540
rs1553646540
NEB ; RIF1
1 1.000 0.080 2 151526032 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1553678967
rs1553678967
NEB ; RIF1
1 1.000 0.080 2 151534274 frameshift variant G/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1553679273
rs1553679273
NEB ; RIF1
1 1.000 0.080 2 151534311 stop gained G/C snv 0.700 1.000 1 2012 2012