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: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs2070424
rs2070424
4 0.851 0.200 21 31667007 non coding transcript exon variant A/G snv 0.13 0.010 1.000 1 2019 2019