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: rs1555374117
rs1555374117
2 1.000 15 23644621 frameshift variant A/- del 0.700 1.000 10 1993 2015
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 1.000 10 1993 2015
dbSNP: rs797044883
rs797044883
4 0.882 0.160 15 23645831 stop gained G/A snv 0.700 1.000 10 1993 2015