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: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs750667928
rs750667928
2 0.925 0.120 19 18077542 missense variant G/A snv 8.1E-06 0.010 1.000 1 2017 2017