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: rs145844329
rs145844329
3 0.882 0.120 8 143215486 missense variant G/A;C snv 2.5E-05; 8.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs587777640
rs587777640
2 0.925 0.080 8 143215097 missense variant G/T snv 0.010 1.000 1 2011 2011