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: rs11741861
rs11741861
3 0.925 0.040 5 150898347 intron variant A/G snv 8.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs11749391
rs11749391
5 0.827 0.120 5 150849504 intron variant T/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs4958847
rs4958847
8 0.807 0.120 5 150860025 intron variant G/A snv 0.25 0.030 0.667 3 2009 2013
dbSNP: rs1000113
rs1000113
2 0.925 0.040 5 150860514 intron variant C/T snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs11747270
rs11747270
7 0.790 0.240 5 150879305 intron variant A/G snv 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs180802994
rs180802994
2 0.925 0.040 5 150848174 missense variant G/A;C;T snv 4.6E-05; 7.2E-03; 6.5E-06 0.010 < 0.001 1 2014 2014