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: rs121909673
rs121909673
10 0.776 0.080 5 162093965 missense variant G/A snv 0.020 1.000 2 2011 2014
dbSNP: rs25409
rs25409
4 0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03 0.020 1.000 2 2008 2011
dbSNP: rs4906902
rs4906902
14 0.724 0.200 15 26774621 intron variant A/G snv 0.15 0.020 < 0.001 2 2007 2012
dbSNP: rs71651682
rs71651682
3 0.925 0.040 15 26772759 missense variant C/T snv 0.020 1.000 2 2008 2012
dbSNP: rs10462087
rs10462087
2 0.925 0.040 5 45295178 intron variant T/C snv 5.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs1053074
rs1053074
2 0.925 0.040 1 160039331 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs12729701
rs12729701
2 0.925 0.040 1 160042616 intron variant A/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1570624
rs1570624
3 0.882 0.040 6 52454252 missense variant G/A snv 1.0E-02 9.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs267606697
rs267606697
3 0.925 0.040 16 1204325 missense variant G/A snv 2.4E-04 4.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs371775791
rs371775791
2 0.925 0.040 15 22866495 missense variant A/G snv 7.2E-05 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs373363000
rs373363000
3 0.882 0.080 5 161686327 missense variant C/A;T snv 4.0E-06; 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs8044363
rs8044363
3 0.925 0.040 16 1200559 synonymous variant T/A;C snv 0.37 0.010 1.000 1 2007 2007
dbSNP: rs9934839
rs9934839
2 0.925 0.040 16 1202259 synonymous variant A/G snv 0.42 0.50 0.010 1.000 1 2007 2007