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: rs12454023
rs12454023
2 1.000 0.040 18 58342372 intron variant C/T snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs2074193
rs2074193
2 1.000 0.040 12 47377646 non coding transcript exon variant T/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2137920
rs2137920
2 1.000 0.040 10 49021593 intron variant T/A snv 0.68 0.700 1.000 1 2013 2013
dbSNP: rs2820651
rs2820651
2 1.000 0.040 10 1429570 intron variant C/A snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs2986961
rs2986961
2 1.000 0.040 10 29798430 regulatory region variant C/T snv 0.65 0.700 1.000 1 2013 2013
dbSNP: rs6741751
rs6741751
3 0.925 0.040 2 233919016 intron variant G/A snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs7015657
rs7015657
2 1.000 0.040 8 21110040 intron variant C/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs963265
rs963265
2 1.000 0.040 9 70479619 intergenic variant T/C snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs1202430946
rs1202430946
17 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
dbSNP: rs1568523935
rs1568523935
20 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2004 2019
dbSNP: rs2651899
rs2651899
5 0.882 0.040 1 3167148 intron variant T/A;C snv 0.030 1.000 3 2015 2020
dbSNP: rs10166942
rs10166942
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.020 1.000 2 2015 2019
dbSNP: rs10504861
rs10504861
3 0.925 0.040 8 88535703 intron variant C/T snv 0.23 0.020 1.000 2 2015 2017
dbSNP: rs12134493
rs12134493
4 0.925 0.040 1 115135325 TF binding site variant C/A snv 9.2E-02 0.020 1.000 2 2015 2017
dbSNP: rs1835740
rs1835740
5 0.882 0.040 8 97154685 intergenic variant T/C snv 0.75 0.020 1.000 2 2012 2012
dbSNP: rs4379368
rs4379368
3 0.925 0.040 7 40426601 intron variant C/T snv 0.12 0.020 1.000 2 2017 2019
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 0.500 2 2004 2007
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 < 0.001 1 2011 2011
dbSNP: rs104894561
rs104894561
5 0.882 0.120 17 82265743 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1057519667
rs1057519667
4 0.851 0.120 19 11113277 splice acceptor variant G/- delins 0.010 1.000 1 2003 2003
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11172113
rs11172113
10 0.882 0.080 12 57133500 intron variant T/C snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs1202989817
rs1202989817
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121908211
rs121908211
5 0.882 0.080 19 13371744 missense variant C/T snv 0.010 1.000 1 2017 2017