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 0.010 < 0.001 1 2017 2017
dbSNP: rs3918252
rs3918252
1 20 46010492 missense variant C/G snv 3.6E-05 2.4E-04 0.010 1.000 1 2015 2015