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: rs781249411
rs781249411
2 0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05 0.800 1.000 2 2013 2014
dbSNP: rs587777718
rs587777718
1 1.000 12 57512849 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 2 2013 2014