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: rs1555391286
rs1555391286
2 1.000 15 25356868 frameshift variant T/- delins 0.700 1.000 12 1990 2015
dbSNP: rs587781196
rs587781196
2 1.000 0.080 15 25370913 stop gained G/A snv 0.700 1.000 12 1990 2015
dbSNP: rs587781233
rs587781233
2 1.000 0.080 15 25360443 missense variant C/T snv 0.700 1.000 12 1990 2015