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: rs1057516282
rs1057516282
2 1.000 0.200 11 108365400 frameshift variant -/G delins 0.700 1.000 3 2003 2015
dbSNP: rs1060501536
rs1060501536
2 1.000 0.200 11 108325395 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1060501548
rs1060501548
2 1.000 0.200 11 108315895 frameshift variant T/- delins 0.700 0
dbSNP: rs1060501650
rs1060501650
2 1.000 0.200 11 108365111 stop gained G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1060501657
rs1060501657
2 1.000 0.200 11 108310266 frameshift variant AT/- delins 0.700 0
dbSNP: rs1060501713
rs1060501713
2 1.000 0.200 11 108343373 splice donor variant T/C snv 0.700 0
dbSNP: rs1064793046
rs1064793046
2 1.000 0.200 11 108343323 frameshift variant TACA/- delins 0.700 0
dbSNP: rs1131691149
rs1131691149
2 1.000 0.200 11 108365110 stop gained G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1131691156
rs1131691156
1 11 108325509 frameshift variant CT/- delins 0.700 0
dbSNP: rs1131691157
rs1131691157
1 11 108329192 frameshift variant AA/- delins 0.700 0
dbSNP: rs1131691158
rs1131691158
1 11 108345755 stop gained A/T snv 0.700 0
dbSNP: rs1131691162
rs1131691162
2 1.000 0.200 11 108327701 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs1131691254
rs1131691254
1 11 108310176 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs121434219
rs121434219
3 0.925 0.200 11 108365476 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 5 1996 2016
dbSNP: rs121434220
rs121434220
2 1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06 0.700 1.000 6 1996 2016
dbSNP: rs1232259438
rs1232259438
1 11 108347309 frameshift variant AT/- del 8.0E-06 0.700 0
dbSNP: rs1282099124
rs1282099124
1 11 108326163 stop gained C/G;T snv 0.700 1.000 2 2003 2006
dbSNP: rs138941496
rs138941496
3 0.925 0.280 11 108332765 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 1996 2004
dbSNP: rs139770721
rs139770721
3 0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06 0.700 1.000 7 1999 2016
dbSNP: rs1398616877
rs1398616877
1 11 108335844 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1438576066
rs1438576066
1 11 108315830 frameshift variant -/C delins 0.700 0
dbSNP: rs1450394308
rs1450394308
2 1.000 0.200 11 108332851 frameshift variant TATTA/- delins 4.0E-06 0.700 1.000 4 1996 2013
dbSNP: rs147187700
rs147187700
3 0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04 0.700 0
dbSNP: rs1555110295
rs1555110295
1 11 108310188 frameshift variant GCT/CCTC delins 0.700 0
dbSNP: rs1555110418
rs1555110418
1 11 108310250 frameshift variant C/- del 0.700 0