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: rs1553694860
rs1553694860
NEB
1 1.000 0.080 2 151540346 frameshift variant -/A delins 0.700 0
dbSNP: rs1553939660
rs1553939660
NEB
1 1.000 0.080 2 151631303 frameshift variant -/A delins 0.700 0
dbSNP: rs1553552384
rs1553552384
NEB ; RIF1
1 1.000 0.080 2 151497713 frameshift variant -/AA delins 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: rs1553561665
rs1553561665
NEB ; RIF1
1 1.000 0.080 2 151499385 splice acceptor variant -/AACA delins 0.700 0
dbSNP: rs762133567
rs762133567
NEB ; RIF1
1 1.000 0.080 2 151496363 splice acceptor variant -/AACA;ACA delins 1.2E-05 0.700 1.000 2 2011 2014
dbSNP: rs781667543
rs781667543
NEB ; RIF1
2 0.925 0.080 2 151497713 splice acceptor variant -/AACA;ACA delins 8.8E-05; 1.0E-05 2.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs1344099907
rs1344099907
NEB ; RIF1
2 0.925 0.080 2 151497028 splice acceptor variant -/AACA;ACA delins 0.700 0
dbSNP: rs1553548771
rs1553548771
NEB ; RIF1
1 1.000 0.080 2 151497028 splice acceptor variant -/AACAC delins 0.700 0
dbSNP: rs1553552413
rs1553552413
NEB ; RIF1
1 1.000 0.080 2 151497713 splice acceptor variant -/AACAC delins 0.700 0
dbSNP: rs772009599
rs772009599
NEB ; RIF1
1 1.000 0.080 2 151499383 splice acceptor variant -/AACAC delins 1.4E-05 0.700 0
dbSNP: rs797044606
rs797044606
NEB ; RIF1
1 1.000 0.080 2 151496281 frameshift variant -/AATA delins 0.700 0
dbSNP: rs765403861
rs765403861
NEB
1 1.000 0.080 2 151640644 frameshift variant -/ATAG delins 7.0E-06 0.700 1.000 2 2006 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: rs1553555882
rs1553555882
NEB ; RIF1
1 1.000 0.080 2 151498274 frameshift variant -/ATTG delins 0.700 1.000 3 2002 2015
dbSNP: rs1553561211
rs1553561211
NEB ; RIF1
1 1.000 0.080 2 151499312 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1559580467
rs1559580467
NEB ; RIF1
1 1.000 0.080 2 151529232 frameshift variant -/CC delins 0.700 0
dbSNP: rs1553556275
rs1553556275
NEB ; RIF1
1 1.000 0.080 2 151498336 frameshift variant -/CTTT delins 0.700 0
dbSNP: rs1559296376
rs1559296376
NEB ; RIF1
1 1.000 0.080 2 151502869 frameshift variant -/CTTT delins 0.700 0
dbSNP: rs1553551650
rs1553551650
NEB ; RIF1
1 1.000 0.080 2 151497645 frameshift variant -/GTGT delins 0.700 0
dbSNP: rs1553695209
rs1553695209
NEB
1 1.000 0.080 2 151540390 frameshift variant -/T delins 0.700 1.000 1 2014 2014
dbSNP: rs1553603438
rs1553603438
NEB ; RIF1
1 1.000 0.080 2 151508040 frameshift variant -/T delins 0.700 0
dbSNP: rs1559360386
rs1559360386
NEB ; RIF1
1 1.000 0.080 2 151508104 splice acceptor variant -/T delins 0.700 0
dbSNP: rs1553934562
rs1553934562
NEB
1 1.000 0.080 2 151629643 frameshift variant -/TA delins 0.700 0
dbSNP: rs1357452519
rs1357452519
NEB ; RIF1
1 1.000 0.080 2 151489969 splice donor variant -/TCCAT ins 7.0E-06 0.700 0