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: rs4689388
rs4689388
4 0.882 0.360 4 6268329 upstream gene variant G/A snv 0.64 0.820 1.000 5 2009 2017
dbSNP: rs1801214
rs1801214
1 1.000 0.080 4 6301295 missense variant C/A;G;T snv 0.67 0.810 1.000 5 2010 2018
dbSNP: rs4458523
rs4458523
3 1.000 0.080 4 6288259 intron variant T/G snv 0.61 0.800 1.000 2 2012 2014
dbSNP: rs1801212
rs1801212
1 1.000 0.080 4 6300792 missense variant G/A;C;T snv 0.78 0.700 1.000 2 2018 2019
dbSNP: rs4416547
rs4416547
1 1.000 0.080 4 6292240 intron variant G/A snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs4688985
rs4688985
1 1.000 0.080 4 6283988 intron variant A/G snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs1553876668
rs1553876668
1 1.000 0.080 4 6289001 stop gained C/A snv 0.700 0
dbSNP: rs10010131
rs10010131
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.060 1.000 6 2009 2013
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.030 1.000 3 2008 2013
dbSNP: rs10012946
rs10012946
1 1.000 0.080 4 6291623 intron variant T/C snv 0.63 0.010 1.000 1 2008 2008
dbSNP: rs3821943
rs3821943
1 1.000 0.080 4 6298213 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs4320200
rs4320200
1 1.000 0.080 4 6269316 upstream gene variant A/T snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs6446482
rs6446482
1 1.000 0.080 4 6293966 intron variant C/G snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs752854
rs752854
3 0.925 0.080 4 6280234 intron variant C/G;T snv 0.010 1.000 1 2008 2008