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: rs1031744496
rs1031744496
2 0.925 0.080 1 179551453 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057516395
rs1057516395
2 0.925 0.080 1 179564699 frameshift variant G/- del 0.700 0
dbSNP: rs1057516523
rs1057516523
2 0.925 0.080 1 179552682 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057516680
rs1057516680
2 0.925 0.080 1 179575862 start lost C/A;T snv 0.700 0
dbSNP: rs1057516880
rs1057516880
2 0.925 0.080 1 179575769 frameshift variant -/TA ins 0.700 0
dbSNP: rs1057516900
rs1057516900
2 0.925 0.080 1 179551262 frameshift variant -/G delins 4.0E-06 0.700 0
dbSNP: rs1057517164
rs1057517164
2 0.925 0.080 1 179552617 stop gained G/A snv 0.700 0
dbSNP: rs1060499703
rs1060499703
2 0.925 0.080 1 179559762 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1167223941
rs1167223941
2 0.925 0.080 1 179575699 stop gained C/A;T snv 0.700 0
dbSNP: rs1212702104
rs1212702104
2 0.925 0.080 1 179557025 splice donor variant A/G snv 0.700 0
dbSNP: rs1320543506
rs1320543506
2 0.925 0.080 1 179575760 frameshift variant -/C delins 0.700 0
dbSNP: rs1340195940
rs1340195940
1 1.000 0.080 1 179575782 missense variant T/A snv 2.8E-05 0.700 0
dbSNP: rs1477180313
rs1477180313
1 1.000 0.080 1 179575777 stop gained C/A;T snv 9.9E-06 0.700 0
dbSNP: rs1553315173
rs1553315173
2 0.925 0.080 1 179564795 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553316611
rs1553316611
2 0.925 0.080 1 179575698 frameshift variant -/C delins 0.700 0
dbSNP: rs1553316648
rs1553316648
2 0.925 0.080 1 179575763 frameshift variant T/CC delins 0.700 0
dbSNP: rs1558355124
rs1558355124
2 0.925 0.080 1 179575698 frameshift variant T/- del 0.700 0
dbSNP: rs200587413
rs200587413
1 1.000 0.080 1 179557143 missense variant C/T snv 5.2E-05 2.1E-05 0.700 0
dbSNP: rs750332447
rs750332447
1 1.000 0.080 1 179564703 missense variant C/A;G snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs776016942
rs776016942
2 0.925 0.080 1 179551452 splice acceptor variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs866921812
rs866921812
1 1.000 0.080 1 179551327 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs869025495
rs869025495
6 0.851 0.080 1 179564715 missense variant G/A snv 0.800 0
dbSNP: rs869312746
rs869312746
2 0.925 0.080 1 179575750 stop gained G/A snv 0.700 0
dbSNP: rs869312747
rs869312747
2 0.925 0.080 1 179552664 missense variant G/A snv 0.700 0
dbSNP: rs530318579
rs530318579
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.800 1.000 24 2000 2015