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: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
dbSNP: rs863223301
rs863223301
2 0.923 0.071 17 7675130 frameshift variant G/GCCATGGC in-del 0.700 1 2002 2002
dbSNP: rs201073751
rs201073751
1 1.000 0.071 1 204190633 missense variant G/A,C,T snp 5.8E-05; 1.4E-03; 4.2E-05 5.8E-03 0.010 1.000 1 2010 2010
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.010 1.000 1 2013 2013
dbSNP: rs587777843
rs587777843
2 0.923 0.107 1 204190681 missense variant G/A snp 2.0E-05 0.010 1.000 1 2010 2010