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: rs606231324
rs606231324
5 0.851 0.080 14 23428505 missense variant C/G;T snv 0.700 1.000 2 2012 2017
dbSNP: rs145734640
rs145734640
3 0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015