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: rs1569077441
rs1569077441
1 1.000 0.120 22 36767790 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs780659194
rs780659194
1 1.000 0.120 22 36763918 splice donor variant C/A;T snv 8.7E-05 1.4E-05 0.700 1.000 1 2019 2019