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: rs2004640
rs2004640
15 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.020 1.000 2 2009 2015
dbSNP: rs35705950
rs35705950
7 0.821 0.071 11 1219991 regulatory region variant G/A,T snp 2.6E-04; 7.7E-02 0.020 1.000 2 2013 2013
dbSNP: rs10168266
rs10168266
6 0.801 0.250 2 191071078 intron variant C/T snp 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1059702
rs1059702
6 0.801 0.179 X 154018741 missense variant A/G snp 0.72 0.84 0.010 1.000 1 2014 2014
dbSNP: rs11575937
rs11575937
17 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2011 2011
dbSNP: rs2034650
rs2034650
IVD
2 1.000 0.036 15 40425103 intron variant G/A snp 0.47 0.010 1.000 1 2015 2015
dbSNP: rs2276109
rs2276109
10 0.756 0.250 11 102875061 intergenic variant T/C snp 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs2609255
rs2609255
3 0.923 0.071 4 88890044 intron variant G/T snp 0.73 0.010 1.000 1 2018 2018
dbSNP: rs34794968
rs34794968
1 1.000 0.036 18 69863790 3 prime UTR variant C/A snp 0.34 0.010 1.000 1 2013 2013
dbSNP: rs3917200
rs3917200
3 0.878 0.071 14 75963525 intron variant A/G snp 9.2E-02 0.13 0.010 1.000 1 2012 2012
dbSNP: rs6837671
rs6837671
3 0.923 0.036 4 88951941 intron variant A/G snp 0.48 0.010 1.000 1 2018 2018
dbSNP: rs727088
rs727088
2 1.000 0.036 18 69863203 3 prime UTR variant G/A snp 0.49 0.010 1.000 1 2013 2013
dbSNP: rs7574865
rs7574865
36 0.618 0.571 2 191099907 intron variant T/G snp 0.79 0.010 1.000 1 2013 2013