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: rs1724889
rs1724889
1 7 2701387 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs4719648
rs4719648
1 7 2717198 intron variant T/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs798489
rs798489
4 7 2762169 splice donor variant C/T snv 0.20 0.700 1.000 1 2016 2016