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: rs386352318
rs386352318
4 0.925 0.080 11 128911776 missense variant T/G snv 0.020 1.000 2 2012 2012
dbSNP: rs386352319
rs386352319
8 0.827 0.080 11 128911724 missense variant G/A;C snv 0.010 1.000 1 2012 2012