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: rs113425597
rs113425597
1 1.000 0.080 5 140807616 synonymous variant G/A;C;T snv 4.0E-06; 4.4E-03; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs6880234
rs6880234
1 1.000 0.080 5 140836371 missense variant C/G snv 4.4E-03 1.6E-02 0.700 1.000 1 2014 2014