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: rs121913488
rs121913488
5 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.740 1.000 4 2001 2019
dbSNP: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.720 1.000 2 2013 2016
dbSNP: rs1057519764
rs1057519764
1 1.000 0.040 13 28027222 missense variant A/C;T snv 0.710 1.000 1 2012 2019
dbSNP: rs1057520026
rs1057520026
2 0.925 0.040 13 28028244 missense variant T/G snv 0.710 1.000 1 2006 2006
dbSNP: rs121913232
rs121913232
1 0.925 0.120 13 28018500 missense variant G/C snv 0.710 1.000 1 2003 2014
dbSNP: rs376588714
rs376588714
1 1.000 0.040 13 28018483 missense variant T/C snv 2.4E-05 1.4E-05 0.710 1.000 1 2005 2014
dbSNP: rs1244282842
rs1244282842
1 1.000 0.040 13 28052566 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs35602083
rs35602083
4 0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs374234147
rs374234147
1 1.000 0.040 13 28057443 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs759272576
rs759272576
1 1.000 0.040 13 28027224 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019