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: rs112744032
rs112744032
1 2 111521757 intron variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs143326447
rs143326447
4 0.925 0.080 2 111511155 intron variant T/C snv 0.11 0.700 1.000 1 2019 2019