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: rs12150053
rs12150053
1 1.000 0.120 17 1761175 upstream gene variant T/A;C snv 0.020 0.500 2 2007 2009
dbSNP: rs12948385
rs12948385
1 1.000 0.120 17 1761607 upstream gene variant G/A snv 0.26 0.020 0.500 2 2007 2009
dbSNP: rs1136287
rs1136287
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.010 1.000 1 2007 2007
dbSNP: rs9913583
rs9913583
2 0.925 0.120 17 1762036 5 prime UTR variant C/A snv 6.6E-02 0.010 1.000 1 2007 2007