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: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.070 0.714 7 2006 2016
dbSNP: rs1333407770
rs1333407770
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.020 1.000 2 2007 2016
dbSNP: rs2289310
rs2289310
3 0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02 0.020 1.000 2 2007 2016
dbSNP: rs1407853222
rs1407853222
1 1.000 0.040 10 77821330 missense variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2289311
rs2289311
3 0.882 0.120 10 77805897 3 prime UTR variant G/A;C;T snv 0.30; 1.3E-05 0.010 1.000 1 2007 2007