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: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.100 0.879 33 2001 2020
dbSNP: rs2970847
rs2970847
3 0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86 0.040 1.000 4 2007 2018
dbSNP: rs3736265
rs3736265
7 0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05 0.020 1.000 2 2011 2017
dbSNP: rs10212638
rs10212638
1 1.000 0.080 4 23864492 intron variant A/G snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs10517030
rs10517030
2 0.925 0.120 4 23961283 intergenic variant A/C snv 6.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs10517032
rs10517032
2 0.925 0.120 4 23966759 regulatory region variant C/A snv 5.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4235308
rs4235308
1 1.000 0.080 4 23862789 intron variant T/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs7656250
rs7656250
1 1.000 0.080 4 23864393 intron variant C/A;T snv 0.010 1.000 1 2015 2015