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: rs113994205
rs113994205
5 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.020 1.000 2 2002 2019
dbSNP: rs121908125
rs121908125
3 0.882 0.160 17 3655304 stop gained G/A;C snv 8.0E-06 0.020 1.000 2 2002 2019
dbSNP: rs780813696
rs780813696
5 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs587777732
rs587777732
9 0.763 0.240 20 44406195 missense variant C/T snv 0.010 1.000 1 2016 2016