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: rs212100
rs212100
1 19 47873738 intron variant T/C snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs2547231
rs2547231
2 19 47881800 intron variant C/A snv 0.86 0.700 1.000 1 2016 2016