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: rs202231187
rs202231187
1 1.000 0.040 18 58329012 missense variant C/G;T snv 4.0E-06; 3.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs572427454
rs572427454
3 0.882 0.080 15 26560943 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs7588807
rs7588807
2 0.925 0.080 2 219574380 intron variant G/T snv 0.48 0.010 1.000 1 2011 2011