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: rs114251396
rs114251396
1 1.000 0.120 16 2089813 missense variant G/A snv 3.7E-03 3.3E-03 0.700 0
dbSNP: rs199476095
rs199476095
2 0.925 0.200 16 2089957 stop gained G/A;C snv 4.1E-06 0.700 0