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: rs794726710
rs794726710
4 0.882 0.160 2 166013812 stop gained G/A snv 0.700 0
dbSNP: rs869312670
rs869312670
3 0.925 0.160 2 166013745 frameshift variant A/- del 0.700 0