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: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs4581
rs4581
5 0.851 0.160 17 66214639 missense variant C/A;G snv 0.38; 4.0E-06; 4.0E-06 0.36 0.010 1.000 1 2015 2015
dbSNP: rs2069718
rs2069718
14 0.742 0.320 12 68156382 intron variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs2069705
rs2069705
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3181032
rs3181032
2 0.925 0.160 12 68162395 intron variant A/C snv 5.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs28362930
rs28362930
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs741761
rs741761
3 0.882 0.200 15 74411588 missense variant T/A;C snv 1.8E-04; 0.35 0.010 1.000 1 2019 2019
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.010 < 0.001 1 2018 2018