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: rs1614972
rs1614972
4 0.925 0.160 4 99336998 intron variant C/T snv 0.38 0.710 1.000 2 2013 2014
dbSNP: rs12639833
rs12639833
3 1.000 0.080 4 99346215 intron variant C/T snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs1612735
rs1612735
3 1.000 0.080 4 99336850 intron variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1789924
rs1789924
5 0.925 0.160 4 99353129 upstream gene variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2241894
rs2241894
3 1.000 0.080 4 99344976 synonymous variant T/A;C snv 4.0E-06; 0.30 0.700 1.000 1 2014 2014
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.050 1.000 5 2012 2018
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2005 2018
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2008 2008
dbSNP: rs4147541
rs4147541
1 1.000 0.080 4 99353000 upstream gene variant G/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs4147542
rs4147542
3 0.882 0.160 4 99347396 intron variant T/C snv 0.33 0.010 1.000 1 2014 2014