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: rs35705950
rs35705950
7 0.821 0.071 11 1219991 regulatory region variant G/A,T snp 2.6E-04; 7.7E-02 0.050 1.000 5 2011 2017
dbSNP: rs121917834
rs121917834
9 0.801 0.107 8 22163096 missense variant T/A,C snp 3.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs2004640
rs2004640
15 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2009 2009
dbSNP: rs2305619
rs2305619
3 0.878 0.107 3 157437072 intron variant A/G snp 0.55 0.50 0.010 1.000 1 2012 2012
dbSNP: rs3775291
rs3775291
30 0.647 0.464 4 186082920 missense variant C/G,T snp 1.2E-04; 0.28 1.6E-04; 0.24 0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
21 0.667 0.500 4 73740307 regulatory region variant A/T snp 0.46 0.010 1.000 1 2011 2011
dbSNP: rs5029939
rs5029939
10 0.756 0.321 6 137874586 intron variant C/G snp 0.12 0.010 1.000 1 2010 2010
dbSNP: rs7574865
rs7574865
36 0.618 0.571 2 191099907 intron variant T/G snp 0.79 0.010 1.000 1 2011 2011
dbSNP: rs8182352
rs8182352
3 0.878 0.071 17 5651667 regulatory region variant T/C snp 0.43 0.010 1.000 1 2011 2011