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: rs146124466
rs146124466
3 0.882 0.200 8 142875767 stop gained G/A snv 5.6E-05 3.1E-04 0.700 0
dbSNP: rs764598023
rs764598023
2 0.925 0.200 8 142875283 missense variant C/T snv 8.0E-06 0.700 0