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: rs6058093
rs6058093
12 0.776 0.080 20 34625392 intron variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs6088580
rs6088580
2 20 34697249 splice region variant G/A;C;T snv 0.700 1.000 1 2016 2016