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: rs1050152
rs1050152
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2066843
rs2066843
4 0.925 0.040 16 50711288 synonymous variant C/A;T snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs2066847
rs2066847
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs2631372
rs2631372
2 1.000 0.040 5 132367886 intron variant G/C snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2009 2009
dbSNP: rs4958847
rs4958847
8 0.807 0.120 5 150860025 intron variant G/A snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs72796353
rs72796353
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 1.000 1 2015 2015