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: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 1.000 2 2016 2016
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2015 2015
dbSNP: rs201191171
rs201191171
2 0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3918253
rs3918253
2 0.925 0.080 20 46010872 intron variant C/T snv 0.43 0.44 0.010 1.000 1 2015 2015