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: rs199473693
rs199473693
3 0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins 0.700 1.000 4 2010 2017
dbSNP: rs118203985
rs118203985
2 0.925 0.080 1 150556974 stop gained T/A;G snv 4.0E-06; 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs778345588
rs778345588
1 1.000 0.080 1 150558021 stop gained C/T snv 4.1E-06 0.010 1.000 1 2013 2013