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: rs104894644
rs104894644
2 0.925 0.080 17 43755612 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1190944217
rs1190944217
1 1.000 0.080 11 46876493 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs387906884
rs387906884
2 0.925 0.080 11 46876494 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018