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: rs745997770
rs745997770
2 0.925 0.120 1 197102323 stop gained G/A snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs765275884
rs765275884
2 0.925 0.120 1 197143279 frameshift variant AT/- delins 0.700 1.000 1 2018 2018