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: rs1397048
rs1397048
2 11 56698623 intergenic variant C/T snp 0.57 0.700 1 2007 2007
dbSNP: rs7775698
rs7775698
12 1.000 0.071 6 135097497 intron variant C/T snp 4.4E-02; 3.2E-05 0.800 6 2009 2013
dbSNP: rs1122794
rs1122794
4 1.000 16 259156 intron variant C/A snp 0.18 0.800 4 2009 2017
dbSNP: rs1408272
rs1408272
5 6 25842723 intron variant T/G snp 3.9E-02 0.800 4 2009 2017
dbSNP: rs2413450
rs2413450
7 22 37074184 intron variant T/C snp 0.61 0.800 4 2009 2017
dbSNP: rs4820268
rs4820268
12 0.846 0.143 22 37073551 synonymous variant G/A,C snp 0.53; 4.0E-06 0.59 0.800 4 2009 2012
dbSNP: rs10758658
rs10758658
4 9 4856877 intron variant G/A snp 0.17 0.800 3 2009 2017
dbSNP: rs11085824
rs11085824
5 19 12890733 regulatory region variant A/G snp 0.30 0.800 3 2009 2017
dbSNP: rs11915082
rs11915082
2 3 196082268 regulatory region variant G/A snp 0.30 0.800 3 2009 2017
dbSNP: rs7776054
rs7776054
15 6 135097778 intron variant A/G snp 0.26 0.800 3 2009 2017
dbSNP: rs9349205
rs9349205
5 6 41957421 intron variant G/A,C snp 0.18 0.800 3 2009 2017
dbSNP: rs5756506
rs5756506
5 22 37071352 intron variant G/A,C snp 0.48 0.800 2 2009 2012
dbSNP: rs628751
rs628751
2 6 139517282 intergenic variant C/A snp 0.40 0.800 2 2009 2012
dbSNP: rs855791
rs855791
26 0.715 0.393 22 37066896 missense variant A/G,T snp 0.57; 4.0E-06 0.65 0.800 6 2010 2017
dbSNP: rs218237
rs218237
7 4 54528005 intergenic variant C/T snp 0.18 0.800 4 2010 2017
dbSNP: rs3218097
rs3218097
6 6 41937537 intron variant G/A,T snp 0.21 0.800 3 2010 2012
dbSNP: rs12127588
rs12127588
3 1 198626376 intergenic variant G/A,C,T snp 6.7E-02 0.700 2 2010 2017
dbSNP: rs2236496
rs2236496
5 9 4844265 intron variant T/C snp 0.20 0.800 2 2010 2012
dbSNP: rs2279434
rs2279434
4 10 45459616 intron variant C/T snp 7.5E-02 0.800 2 2010 2012
dbSNP: rs470119
rs470119
4 22 50528485 non coding transcript exon variant T/C,G snp 0.61; 8.2E-06 0.55 0.800 2 2010 2012
dbSNP: rs4916483
rs4916483
4 3 196180782 regulatory region variant T/C snp 0.12 0.800 2 2010 2012
dbSNP: rs632057
rs632057
5 6 139512875 intergenic variant T/G snp 0.55 0.800 2 2010 2012
dbSNP: rs6494537
rs6494537
3 15 65759007 intron variant C/G,T snp 0.57 0.800 2 2010 2012
dbSNP: rs7085433
rs7085433
4 10 46002468 intron variant C/T snp 9.6E-02 0.700 2 2010 2017
dbSNP: rs9310736
rs9310736
4 3 24309320 intron variant A/G snp 0.70 0.800 2 2010 2012