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: rs104894110
rs104894110
8 0.776 0.280 9 97854108 missense variant C/T snv 0.020 1.000 2 1998 2002
dbSNP: rs1474322770
rs1474322770
5 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013
dbSNP: rs28937575
rs28937575
4 0.851 0.280 9 97854084 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2166975
rs2166975
5 0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 0.010 1.000 1 2007 2007
dbSNP: rs2235371
rs2235371
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.730 0.750 4 2009 2019
dbSNP: rs104893810
rs104893810
7 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs13041247
rs13041247
5 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.710 0.500 2 2010 2015
dbSNP: rs642961
rs642961
14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2014
dbSNP: rs11624283
rs11624283
3 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs560426
rs560426
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.010 < 0.001 1 2010 2010
dbSNP: rs1546124
rs1546124
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 2011 2011
dbSNP: rs4783099
rs4783099
6 0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 0.020 1.000 2 2011 2017
dbSNP: rs1139
rs1139
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs16260
rs16260
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs6757845
rs6757845
4 0.851 0.200 2 179449268 intron variant T/C snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs7205289
rs7205289
3 0.882 0.200 16 69933102 non coding transcript exon variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs3905385
rs3905385
3 0.882 0.200 9 91906451 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs522616
rs522616
10 0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs8179096
rs8179096
4 0.851 0.200 17 78925567 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11466285
rs11466285
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2240307
rs2240307
3 0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523
5 0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14 0.010 1.000 1 2014 2014