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: rs730881422
rs730881422
2 1.000 0.080 2 214730416 stop gained G/A snv 0.700 1.000 4 2004 2017
dbSNP: rs587780024
rs587780024
3 0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 0.700 1.000 2 2010 2015
dbSNP: rs587780033
rs587780033
1 2 214781251 frameshift variant T/-;TT delins 0.700 1.000 2 2015 2016
dbSNP: rs1057517589
rs1057517589
2 1.000 0.080 2 214797099 frameshift variant TC/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1553619349
rs1553619349
2 1.000 0.080 2 214767643 stop gained G/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1553622178
rs1553622178
1 2 214780662 stop gained -/T delins 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: rs786203811
rs786203811
1 2 214728861 frameshift variant TG/- del 0.700 1.000 1 2011 2011
dbSNP: rs1064796026
rs1064796026
1 2 214728946 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs1234033325
rs1234033325
1 2 214745720 splice donor variant A/C snv 0.700 0
dbSNP: rs1420243208
rs1420243208
1 2 214781458 frameshift variant TT/- del 0.700 0
dbSNP: rs1553612164
rs1553612164
1 2 214728867 stop gained G/A snv 0.700 0
dbSNP: rs1553615092
rs1553615092
1 2 214745723 frameshift variant T/- del 0.700 0
dbSNP: rs1553615135
rs1553615135
1 2 214745788 stop gained G/A snv 0.700 0
dbSNP: rs1553615184
rs1553615184
1 2 214745854 splice acceptor variant CT/- delins 0.700 0
dbSNP: rs1553616361
rs1553616361
1 2 214752478 frameshift variant -/TCTCT delins 0.700 0
dbSNP: rs1553619196
rs1553619196
1 2 214767480 splice donor variant A/G snv 0.700 0
dbSNP: rs1553619249
rs1553619249
1 2 214767537 frameshift variant -/A delins 0.700 0
dbSNP: rs1553619688
rs1553619688
1 2 214769230 splice region variant -/C delins 0.700 0
dbSNP: rs1553619704
rs1553619704
1 2 214769256 frameshift variant T/- delins 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: rs1553622160
rs1553622160
2 1.000 0.080 2 214780643 frameshift variant TAGAC/- delins 0.700 0
dbSNP: rs1553622164
rs1553622164
1 2 214780647 frameshift variant GACA/- delins 0.700 0
dbSNP: rs1553622218
rs1553622218
1 2 214780718 stop gained C/A snv 0.700 0