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: rs1555284566
rs1555284566
1 13 32340503 frameshift variant -/T delins 0.700 0
dbSNP: rs1555287661
rs1555287661
1 13 32370534 frameshift variant TTCAAAGA/- delins 0.700 0
dbSNP: rs1555288169
rs1555288169
1 13 32376747 frameshift variant -/T delins 0.700 0
dbSNP: rs879255309
rs879255309
4 0.925 0.200 13 32338238 stop gained C/T snv 0.700 0