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: rs10503899
rs10503899
1 1.000 0.040 8 32089718 intron variant A/G snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs17673138
rs17673138
4 0.851 0.040 8 32840440 intron variant A/C snv 8.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.100 0.900 10 2008 2019
dbSNP: rs3924999
rs3924999
5 0.851 0.040 8 32595840 missense variant G/A snv 0.40 0.31 0.090 0.667 9 2003 2016
dbSNP: rs10503929
rs10503929
3 0.925 0.040 8 32756465 missense variant T/C snv 0.13 0.13 0.030 1.000 3 2011 2018
dbSNP: rs2954041
rs2954041
2 0.925 0.040 8 32665107 intron variant G/T snv 4.8E-02 0.030 0.333 3 2003 2014
dbSNP: rs1081062
rs1081062
1 1.000 0.040 8 31642748 intron variant G/A snv 0.72 0.010 1.000 1 2006 2006
dbSNP: rs11989919
rs11989919
3 0.882 0.040 8 32645107 intron variant T/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs17603876
rs17603876
1 1.000 0.040 8 31810888 intron variant A/G snv 7.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs367543150
rs367543150
1 1.000 0.040 8 31639995 missense variant G/A;C;T snv 2.9E-04; 1.2E-03; 1.5E-04 0.010 1.000 1 2007 2007
dbSNP: rs3757930
rs3757930
1 1.000 0.040 8 32731600 intron variant C/T snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs3802160
rs3802160
1 1.000 0.040 8 32547111 intron variant A/G snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs4236710
rs4236710
3 0.882 0.040 8 32571241 intron variant C/T snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs4512342
rs4512342
5 0.827 0.120 8 32750356 intron variant T/G snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs4531002
rs4531002
3 0.882 0.040 8 32644468 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs4560751
rs4560751
1 1.000 0.040 8 31672512 intron variant T/G snv 0.78 0.010 1.000 1 2010 2010
dbSNP: rs6982890
rs6982890
3 0.882 0.040 8 32757580 intron variant C/T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs6988339
rs6988339
1 1.000 0.040 8 32688398 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs74942016
rs74942016
1 1.000 0.040 8 32754452 missense variant G/A;T snv 4.0E-06; 3.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs764059
rs764059
1 1.000 0.040 8 32673773 intron variant G/A snv 0.80 0.010 < 0.001 1 2013 2013