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: rs80359777
rs80359777
5 0.851 0.240 13 32332466 frameshift variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 2004 2004
dbSNP: rs1555461627
rs1555461627
1 1.000 0.120 16 23635768 stop gained G/A snv 0.700 0