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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2009 2011
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.020 1.000 2 2011 2013
dbSNP: rs37369
rs37369
9 0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 0.020 1.000 2 2016 2017
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2018 2018
dbSNP: rs12567209
rs12567209
6 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1258130495
rs1258130495
3 0.882 0.040 4 147485727 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs1815739
rs1815739
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs2306235
rs2306235
6 0.827 0.040 1 150150942 missense variant C/G;T snv 1.1E-02; 1.6E-05 4.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2003 2003
dbSNP: rs8259
rs8259
BSG
9 0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 0.010 1.000 1 2017 2017