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: rs222747
rs222747
8 0.827 0.240 17 3589906 missense variant C/A;G;T snv 0.72; 4.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs398123010
rs398123010
3 0.882 0.040 8 72034369 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2014 2014