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: rs1057517718
rs1057517718
4 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1477692170
rs1477692170
2 0.925 0.160 2 25161686 stop gained C/A;G;T snv 1.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1800414
rs1800414
4 0.851 0.200 15 27951891 missense variant T/A;C snv 4.0E-06; 4.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs74653330
rs74653330
5 0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs917202708
rs917202708
2 0.925 0.160 2 25161716 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs965705838
rs965705838
2 0.925 0.160 3 69939113 missense variant G/A snv 0.010 1.000 1 2017 2017