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: rs13114738
rs13114738
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs629301
rs629301
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs567798234
rs567798234
5 0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1860561
rs1860561
5 0.851 0.080 12 110345436 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs6533530
rs6533530
16 0.851 0.120 4 110810780 intergenic variant T/C snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs9885413
rs9885413
2 0.925 0.040 5 110840429 intergenic variant G/T snv 0.19 0.710 1.000 1 2016 2016
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2014 2017
dbSNP: rs737337
rs737337
6 0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20 0.010 1.000 1 2019 2019
dbSNP: rs397507549
rs397507549
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4506565
rs4506565
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.060 1.000 6 2000 2019
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.100 0.917 12 2003 2019
dbSNP: rs749303395
rs749303395
3 0.882 0.040 1 114680329 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs740363
rs740363
5 0.851 0.080 10 116816095 intron variant G/A snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs7115242
rs7115242
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs198358
rs198358
4 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs5068
rs5068
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs111033560
rs111033560
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs2230345
rs2230345
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs397516881
rs397516881
7 0.827 0.120 10 119676917 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs12369179
rs12369179
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016