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: rs2022542
rs2022542
1 6 32318908 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3129932
rs3129932
3 0.925 0.160 6 32368350 intron variant G/C snv 0.76 0.700 1.000 1 2012 2012