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: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.900 1.000 19 2004 2019
dbSNP: rs1789891
rs1789891
4 1.000 0.080 4 99329262 intron variant C/A snv 0.13 0.820 1.000 4 2012 2019
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.720 1.000 4 2014 2019
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: rs2173201
rs2173201
3 1.000 0.080 4 99329813 intron variant C/A snv 0.30 0.710 1.000 2 2014 2014
dbSNP: rs1154433
rs1154433
3 1.000 0.080 4 99332551 intron variant A/G;T snv 0.700 1.000 1 2019 2019
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: rs1693457
rs1693457
3 1.000 0.080 4 99315605 non coding transcript exon variant C/T snv 0.81 0.700 1.000 1 2014 2014
dbSNP: rs1789882
rs1789882
4 1.000 0.080 4 99313896 synonymous variant A/G;T snv 0.82 0.700 1.000 1 2014 2014
dbSNP: rs2075633
rs2075633
3 1.000 0.080 4 99317841 non coding transcript exon variant T/C snv 0.24 0.700 1.000 1 2019 2019
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: rs4147542
rs4147542
3 0.882 0.160 4 99347396 intron variant T/C snv 0.33 0.010 1.000 1 2014 2014