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: rs397515340
rs397515340
3 0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05 0.700 0