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: rs1382444181
rs1382444181
2 1.000 17 76733070 frameshift variant G/- delins 8.3E-06 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs1462161137
rs1462161137
3 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs587777644
rs587777644
3 0.925 17 76733060 frameshift variant CACT/- delins 0.700 1.000 2 2014 2014