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: rs67418890
rs67418890
1 1 161571067 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs6917603
rs6917603
2 6 30049294 intron variant T/C snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs6982636
rs6982636
7 8 125467073 intron variant G/A snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs7228085
rs7228085
1 18 49634444 intergenic variant A/G snv 0.53 0.800 1.000 1 2012 2012
dbSNP: rs72669744
rs72669744
1 1 55650832 intron variant C/T snv 2.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs7499892
rs7499892
7 16 56972678 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.800 1.000 1 2012 2012
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2009 2009
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.800 1.000 1 2012 2012
dbSNP: rs174547
rs174547
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.800 1.000 2 2012 2016
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs1800775
rs1800775
18 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.700 1.000 1 2009 2009
dbSNP: rs6511720
rs6511720
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.700 1.000 1 2009 2009
dbSNP: rs4803750
rs4803750
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs1532624
rs1532624
12 0.851 0.160 16 56971567 intron variant C/A snv 0.34 0.700 1.000 1 2009 2009
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs651821
rs651821
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.800 1.000 1 2012 2012
dbSNP: rs1532085
rs1532085
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1864163
rs1864163
10 0.882 0.120 16 56963321 intron variant G/A snv 0.26 0.700 1.000 1 2009 2009
dbSNP: rs4245791
rs4245791
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs55791371
rs55791371
3 0.925 0.080 19 11077477 intron variant A/C snv 0.11 0.800 1.000 1 2012 2012
dbSNP: rs673548
rs673548
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs6065904
rs6065904
7 1.000 0.080 20 45906012 intron variant G/A snv 0.23 0.800 1.000 2 2009 2012
dbSNP: rs1160985
rs1160985
6 1.000 0.080 19 44900155 intron variant C/T snv 0.52 0.700 1.000 1 2013 2013