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: rs6119267
rs6119267
3 20 32576112 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs910889
rs910889
2 20 32517147 intron variant T/C snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs1868385
rs1868385
2 20 32523490 intron variant C/G;T snv 0.700 1.000 1 2019 2019