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: rs1994876
rs1994876
1 3 8507979 intron variant C/T snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs543719221
rs543719221
1 3 8105663 intron variant G/A;T snv 0.700 1.000 1 2017 2017