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 0.500 2 2010 2018
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 1.000 2 2012 2017
dbSNP: rs1056628
rs1056628
2 20 46016407 3 prime UTR variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs17577
rs17577
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2018 2018