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: rs1555313219
rs1555313219
2 1.000 14 21393500 stop gained C/A;T snv 0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1135401763
rs1135401763
2 1.000 14 21431297 frameshift variant G/- del 0.700 0