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: rs765325921
rs765325921
1 1.000 0.120 2 203870635 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2016 2016
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 0.500 2 2006 2007
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2008 2009