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: rs587780021
rs587780021
6 0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 0.700 1.000 6 2012 2017
dbSNP: rs587781707
rs587781707
3 1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05 0.700 1.000 4 2015 2016
dbSNP: rs587781948
rs587781948
5 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2013 2017
dbSNP: rs730881422
rs730881422
2 1.000 0.080 2 214730416 stop gained G/A snv 0.700 1.000 4 2004 2017
dbSNP: rs730881411
rs730881411
1 2 214781426 stop gained G/A;C snv 8.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs758972589
rs758972589
1 2 214792327 stop gained G/A;T snv 8.0E-06 1.4E-05 0.700 1.000 2 2013 2016
dbSNP: rs1553619349
rs1553619349
2 1.000 0.080 2 214767643 stop gained G/T snv 0.700 1.000 1 2008 2008
dbSNP: rs587782681
rs587782681
2 1.000 0.080 2 214780662 stop gained G/C snv 4.0E-06 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs786202118
rs786202118
1 2 214728742 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1060501288
rs1060501288
1 2 214781066 stop gained C/A;G;T snv 4.2E-06 0.700 0
dbSNP: rs1213894295
rs1213894295
1 2 214769242 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1234033325
rs1234033325
1 2 214745720 splice donor variant A/C snv 0.700 0
dbSNP: rs1553612164
rs1553612164
1 2 214728867 stop gained G/A snv 0.700 0
dbSNP: rs1553615135
rs1553615135
1 2 214745788 stop gained G/A snv 0.700 0
dbSNP: rs1553619196
rs1553619196
1 2 214767480 splice donor variant A/G snv 0.700 0
dbSNP: rs1553619721
rs1553619721
1 2 214769282 stop gained G/A snv 0.700 0
dbSNP: rs1553622106
rs1553622106
1 2 214780592 stop gained C/A snv 0.700 0
dbSNP: rs1553622218
rs1553622218
1 2 214780718 stop gained C/A snv 0.700 0
dbSNP: rs1553622534
rs1553622534
1 2 214781221 stop gained C/A;T snv 0.700 0
dbSNP: rs1553622720
rs1553622720
1 2 214781501 stop gained C/A;T snv 0.700 0
dbSNP: rs1559424634
rs1559424634
1 2 214780970 stop gained T/A snv 0.700 0
dbSNP: rs1559437094
rs1559437094
1 2 214792389 stop gained C/T snv 0.700 0
dbSNP: rs1559437198
rs1559437198
1 2 214792414 missense variant A/G snv 0.700 0
dbSNP: rs377153250
rs377153250
1 2 214780658 stop gained G/A;C snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs587780035
rs587780035
1 2 214781165 stop gained G/A;C;T snv 7.8E-05; 4.6E-06 0.700 0