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: rs1555923822
rs1555923822
3 1.000 22 42210236 frameshift variant -/T delins 0.700 1.000 7 2007 2017
dbSNP: rs1555925903
rs1555925903
2 1.000 22 42212621 frameshift variant C/- delins 0.700 1.000 7 2007 2017
dbSNP: rs1555926209
rs1555926209
3 1.000 22 42213082 stop gained G/A snv 0.700 1.000 7 2007 2017