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: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2005 2010
dbSNP: rs17577
rs17577
30 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.020 1.000 2 2005 2007
dbSNP: rs2250889
rs2250889
23 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.020 1.000 2 2005 2007
dbSNP: rs3918242
rs3918242
53 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2019 2019