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: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2007 2012
dbSNP: rs1057519773
rs1057519773
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913448
rs121913448
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913451
rs121913451
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs387906517
rs387906517
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2008 2008