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: rs1057519866
rs1057519866
5 0.851 0.120 10 103093198 missense variant C/T snv 0.020 1.000 2 2016 2018
dbSNP: rs72846714
rs72846714
1 1.000 0.120 10 103118697 intron variant G/A snv 0.15 0.010 < 0.001 1 2018 2018