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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2008
dbSNP: rs2670660
rs2670660
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.030 1.000 3 2007 2013
dbSNP: rs10932037
rs10932037
1 1.000 0.040 2 203960623 3 prime UTR variant C/T snv 8.2E-02 0.020 0.500 2 2008 2009
dbSNP: rs6502867
rs6502867
3 0.882 0.120 17 5517008 intron variant C/T snv 0.82 0.020 1.000 2 2007 2013
dbSNP: rs1008588
rs1008588
1 1.000 0.040 17 5808630 intron variant A/G snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs11966200
rs11966200
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs12150220
rs12150220
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2013 2013
dbSNP: rs12992492
rs12992492
2 1.000 0.040 2 203836831 intergenic variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs13208776
rs13208776
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs17008723
rs17008723
2 0.925 0.040 3 71523984 intron variant T/G snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs3138557
rs3138557
4 0.851 0.080 12 68158711 intron variant CGAG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs6902119
rs6902119
3 0.882 0.160 6 167092303 intron variant T/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs7758128
rs7758128
3 0.882 0.040 6 32377506 intron variant C/A;T snv 4.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs8182352
rs8182352
5 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 0.010 1.000 1 2007 2007
dbSNP: rs9468925
rs9468925
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.010 1.000 1 2012 2012