Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201553266
NEB
0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 4
rs549794342
NEB ; RIF1
0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 4
rs1197561990
NEB
0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06 3
rs769345284
NEB
0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 3
rs191579691
NEB
0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06 2
rs778593702
NEB
0.925 0.080 2 151729614 splice donor variant C/T snv 8.0E-06 2
rs780022652
NEB
0.925 0.080 2 151674476 splice donor variant C/A;T snv 1.6E-05; 8.0E-06 2
rs786204430
NEB
0.925 0.080 2 151684829 frameshift variant A/- del 7.0E-06 2
rs928945364
NEB
0.925 0.080 2 151617381 stop gained G/A snv 7.0E-06 2
rs1257495033
NEB ; RIF1
0.925 0.080 2 151496977 frameshift variant -/ATCT delins 4.9E-06; 4.9E-06 1.4E-05 2
rs1344099907
NEB ; RIF1
0.925 0.080 2 151497028 splice acceptor variant -/AACA;ACA delins 2
rs1458048713
NEB ; RIF1
0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05 2
rs760935667
NEB ; RIF1
0.925 0.080 2 151519759 stop gained G/A snv 8.0E-06 7.0E-06 2
rs781667543
NEB ; RIF1
0.925 0.080 2 151497713 splice acceptor variant -/AACA;ACA delins 8.8E-05; 1.0E-05 2.1E-05 2
rs934111355
NEB ; RIF1
0.925 0.080 2 151496992 frameshift variant GTAG/- delins 5.0E-06 1.4E-05 2
rs555445835
RIF1 ; NEB
0.925 0.080 2 151494212 frameshift variant AG/- del 8.3E-06 1.4E-05 2
rs748922882
RIF1 ; NEB
0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06 2
rs763364977
RIF1 ; NEB
0.925 0.080 2 151496308 stop gained G/A;T snv 8.1E-06 2.1E-05 2
rs1057516348
NEB
1.000 0.080 2 151650339 frameshift variant CCT/GA delins 1
rs1057516381
NEB
1.000 0.080 2 151674585 splice acceptor variant C/A snv 1
rs1057516676
NEB
1.000 0.080 2 151643272 stop gained G/A snv 1
rs1057516739
NEB
1.000 0.080 2 151695576 splice region variant ATCAC/- delins 1
rs1057516758
NEB
1.000 0.080 2 151658088 frameshift variant T/- delins 1
rs1057516938
NEB
1.000 0.080 2 151688315 frameshift variant CT/- delins 1
rs1057516996
NEB
1.000 0.080 2 151650380 splice acceptor variant C/T snv 7.0E-06 1