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: rs104894003
rs104894003
7 0.827 0.320 7 5528536 missense variant G/A snv 0.800 1.000 2 2002 2006
dbSNP: rs1166509821
rs1166509821
2 0.925 0.240 7 5529305 missense variant G/A;C snv 4.0E-06 0.700 0