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: rs387907298
rs387907298
2 0.925 0.200 17 50168562 stop gained C/T snv 5.7E-06 0.700 0
dbSNP: rs28933693
rs28933693
3 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.010 1.000 1 2005 2005