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: rs1302297709
rs1302297709
3 0.882 0.080 17 58703319 missense variant A/G snv 0.010 < 0.001 1 2004 2004
dbSNP: rs587780256
rs587780256
2 0.925 0.080 17 58696794 missense variant T/C snv 1.6E-04 9.1E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs587782818
rs587782818
8 0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs61758784
rs61758784
2 0.925 0.080 17 58695161 missense variant G/A snv 3.5E-03 3.4E-03 0.010 < 0.001 1 2012 2012