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: rs10957057
rs10957057
1 1.000 0.080 8 58487781 downstream gene variant C/T snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs11022858
rs11022858
1 1.000 0.080 11 13505086 intergenic variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11766140
rs11766140
1 1.000 0.080 7 24480037 intergenic variant G/A snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs1319831679
rs1319831679
1 1.000 0.080 16 69711169 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs13251096
rs13251096
1 1.000 0.080 8 58505225 downstream gene variant A/G snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs1346600942
rs1346600942
1 1.000 0.080 1 225838845 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs150435881
rs150435881
1 1.000 0.080 10 94947853 missense variant C/A;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs188096
rs188096
1 1.000 0.080 13 103052694 missense variant A/C snv 0.85 0.89 0.010 1.000 1 2008 2008
dbSNP: rs2303080
rs2303080
1 1.000 0.080 5 7878311 missense variant T/A snv 4.3E-02 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs34548439
rs34548439
1 1.000 0.080 5 38831029 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs35051736
rs35051736
1 1.000 0.080 20 54171650 missense variant C/G;T snv 4.0E-06; 3.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs35226739
rs35226739
1 1.000 0.080 3 7428456 intron variant T/G snv 7.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs370302501
rs370302501
1 1.000 0.080 8 18222499 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs41281678
rs41281678
1 1.000 0.080 13 103052700 synonymous variant G/A snv 1.9E-02 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs6068583
rs6068583
1 1.000 0.080 20 53559566 intron variant A/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs6747776
rs6747776
1 1.000 0.080 2 218860595 intron variant C/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs7944251
rs7944251
1 1.000 0.080 11 92263265 intergenic variant G/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs8192871
rs8192871
1 1.000 0.080 8 58499412 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs8192877
rs8192877
1 1.000 0.080 8 58491882 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs8192879
rs8192879
1 1.000 0.080 8 58491017 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs846672
rs846672
1 1.000 0.080 7 122990126 downstream gene variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11786580
rs11786580
2 0.925 0.160 8 58493381 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1198119472
rs1198119472
2 0.925 0.120 6 52799190 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1316694869
rs1316694869
2 0.925 0.160 22 30615698 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2287780
rs2287780
2 0.925 0.080 5 7889191 missense variant C/T snv 6.1E-02 4.2E-02 0.010 1.000 1 2007 2007