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: rs387907213
rs387907213
1 1.000 8 116847643 missense variant A/G snv 0.800 1.000 1 2012 2012
dbSNP: rs1563686762
rs1563686762
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs863224910
rs863224910
1 1.000 8 116847588 missense variant A/G snv 0.700 0