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: rs1556488264
rs1556488264
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs761665644
rs761665644
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0