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: rs12191877
rs12191877
7 0.851 0.120 6 31285148 intron variant C/T snv 0.12 0.830 1.000 5 2009 2015
dbSNP: rs10484554
rs10484554
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.810 1.000 4 2008 2018
dbSNP: rs3134792
rs3134792
4 0.851 0.280 6 31344549 intron variant T/G snv 8.8E-02 0.800 1.000 2 2007 2008
dbSNP: rs4406273
rs4406273
2 0.925 0.040 6 31298313 intron variant G/A snv 8.6E-02 0.800 1.000 1 2012 2012
dbSNP: rs12199223
rs12199223
1 1.000 0.040 6 31274954 intron variant T/A snv 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs12189871
rs12189871
2 0.925 0.080 6 31284147 intron variant C/T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs281860350
rs281860350
1 1.000 0.040 6 31271780 synonymous variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs2894207
rs2894207
8 0.882 0.160 6 31295974 intron variant T/C snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs75912596
rs75912596
1 1.000 0.040 6 31271093 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs9266150
rs9266150
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs9468925
rs9468925
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.010 1.000 1 2011 2011