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: rs2231137
rs2231137
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.700 0
dbSNP: rs72552713
rs72552713
2 0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04 0.700 0