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: rs16946160
rs16946160
1 13 91551559 intron variant G/A snp 0.13 0.700 1 2011 2011
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2012 2012
dbSNP: rs1128503
rs1128503
28 0.642 0.536 7 87550285 synonymous variant A/G snp 0.54 0.61 0.010 1.000 1 2012 2012
dbSNP: rs121912491
rs121912491
4 0.878 0.214 3 49131128 missense variant C/T snp 0.010 1.000 1 2011 2011
dbSNP: rs2032582
rs2032582
54 0.602 0.500 7 87531302 missense variant A/C,T snp 0.54; 3.8E-02 0.64; 2.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs386833892
rs386833892
2 1.000 0.071 19 35845538 missense variant A/C,G snp 0.010 1.000 1 2010 2010
dbSNP: rs61747728
rs61747728
8 0.801 0.071 1 179557079 missense variant C/T snp 3.0E-02 2.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs74315343
rs74315343
3 0.923 0.071 1 179561328 stop gained G/A snp 1.6E-05 0.010 1.000 1 2007 2007