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: rs6220
rs6220
4 0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67 0.030 0.667 3 2011 2018
dbSNP: rs7136446
rs7136446
8 0.882 0.160 12 102444737 intron variant C/T snv 0.66 0.020 0.500 2 2011 2017
dbSNP: rs1239905891
rs1239905891
3 0.925 0.080 12 102475786 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1520220
rs1520220
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 < 0.001 1 2018 2018
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018