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: rs16991615
rs16991615
6 0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02 0.800 1.000 6 2009 2019
dbSNP: rs2277339
rs2277339
10 12 56752285 missense variant T/G snv 0.12 0.14 0.800 1.000 4 2012 2019
dbSNP: rs10852344
rs10852344
1 16 11923062 upstream gene variant C/T snv 0.43 0.800 1.000 3 2012 2015
dbSNP: rs11668344
rs11668344
4 0.925 0.120 19 55322296 intron variant A/G snv 0.35 0.800 1.000 3 2012 2015
dbSNP: rs1172822
rs1172822
2 1.000 0.040 19 55308477 intron variant C/T snv 0.34 0.800 1.000 3 2009 2013
dbSNP: rs12461110
rs12461110
2 19 55809297 missense variant G/A snv 0.32 0.26 0.800 1.000 3 2012 2015
dbSNP: rs365132
rs365132
2 5 176951573 synonymous variant G/T snv 0.51 0.58 0.800 1.000 3 2009 2015
dbSNP: rs1046089
rs1046089
4 0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40 0.800 1.000 2 2012 2013
dbSNP: rs1760940
rs1760940
PNP
1 14 20470092 intron variant A/C snv 0.22 0.800 1.000 2 2012 2019
dbSNP: rs2153157
rs2153157
1 6 10897255 intron variant G/A snv 0.55 0.800 1.000 2 2009 2012
dbSNP: rs236114
rs236114
2 1.000 0.040 20 5954739 intron variant T/C snv 0.84 0.84 0.800 1.000 2 2009 2013
dbSNP: rs2517388
rs2517388
3 0.925 0.080 8 38120214 intron variant T/G snv 0.24 0.800 1.000 2 2012 2013
dbSNP: rs4246511
rs4246511
1 1 38914713 intron variant T/C snv 0.55 0.800 1.000 2 2012 2015
dbSNP: rs4693089
rs4693089
2 4 83452469 intron variant A/G snv 0.60 0.800 1.000 2 2012 2015
dbSNP: rs4886238
rs4886238
1 13 60539605 intron variant G/A;T snv 0.800 1.000 2 2012 2015
dbSNP: rs10183486
rs10183486
1 2 171134461 intron variant C/T snv 0.41 0.800 1.000 1 2012 2012
dbSNP: rs10496262
rs10496262
1 2 81524000 intergenic variant C/A snv 0.12 0.800 1.000 1 2007 2007
dbSNP: rs10496265
rs10496265
1 2 81441684 intergenic variant T/C snv 0.12 0.800 1.000 1 2007 2007
dbSNP: rs11597068
rs11597068
1 10 123228637 intergenic variant A/G snv 0.11 0.800 1.000 1 2014 2014
dbSNP: rs12294104
rs12294104
4 11 30361352 intergenic variant C/T snv 0.14 0.800 1.000 1 2012 2012
dbSNP: rs1473307
rs1473307
1 2 225360907 intergenic variant C/T snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs1635501
rs1635501
1 1 241877473 intron variant C/T snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs17153527
rs17153527
1 7 106855364 intergenic variant T/C snv 9.3E-02 0.800 1.000 1 2009 2009
dbSNP: rs2151145
rs2151145
1 9 79730966 downstream gene variant G/A snv 0.78 0.800 1.000 1 2009 2009
dbSNP: rs2303369
rs2303369
3 0.925 0.120 2 27492549 intron variant C/T snv 0.38 0.800 1.000 1 2012 2012