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: rs2441026
rs2441026
2 5 54148668 intron variant C/T snv 0.44 0.700 1.000 2 2017 2019
dbSNP: rs278064
rs278064
1 5 54163093 intron variant T/C snv 0.41 0.700 1.000 1 2019 2019