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: rs267607116
rs267607116
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1554555063
rs1554555063
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0