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: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.030 1.000 3 2011 2017
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019