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: rs2293275
rs2293275
4 0.851 0.160 2 48694236 missense variant T/C snv 0.61 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4073366
rs4073366
1 1.000 0.080 2 48755483 intron variant C/G snv 0.19 0.16 0.010 1.000 1 2013 2013