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: rs137852981
rs137852981
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs773685207
rs773685207
6 0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 0.700 0