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: rs1554769022
rs1554769022
1 1.000 9 128632307 missense variant C/G snv 0.700 0
dbSNP: rs1564197227
rs1564197227
1 1.000 9 128568850 missense variant G/A snv 0.700 0
dbSNP: rs1564286708
rs1564286708
1 1.000 9 128611753 missense variant C/T snv 0.700 0
dbSNP: rs398122865
rs398122865
1 1.000 9 128627413 inframe deletion AGC/- delins 0.700 0
dbSNP: rs587784438
rs587784438
1 1.000 9 128627423 inframe deletion GAG/- delins 0.700 0
dbSNP: rs587784440
rs587784440
3 0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 0.700 0