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: rs104894630
rs104894630
4 0.882 0.120 17 10692805 missense variant G/A snv 0.800 1.000 4 2000 2009
dbSNP: rs587777220
rs587777220
4 0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06 0.710 1.000 1 2013 2013
dbSNP: rs587776629
rs587776629
1 1.000 0.080 17 10695740 coding sequence variant CT/- delins 0.700 0