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: rs1828911
rs1828911
1 8 75550312 intron variant T/C;G snv 0.700 1.000 3 2018 2019
dbSNP: rs2941484
rs2941484
4 0.882 0.160 8 75566533 3 prime UTR variant C/T snv 0.52 0.700 1.000 2 2013 2019