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: rs74315433
rs74315433
3 0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03 0.040 1.000 4 2002 2017
dbSNP: rs148957473
rs148957473
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.030 0.667 3 2008 2013
dbSNP: rs74315432
rs74315432
2 0.925 0.040 20 25079443 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.030 0.667 3 2002 2011
dbSNP: rs6050307
rs6050307
1 1.000 0.040 20 25081706 missense variant G/A;T snv 9.7E-06; 7.2E-03 0.020 1.000 2 2013 2015
dbSNP: rs12480307
rs12480307
1 1.000 0.040 20 25078910 synonymous variant T/C snv 0.26 0.30 0.010 1.000 1 2013 2013
dbSNP: rs140122268
rs140122268
1 1.000 0.040 20 25079507 missense variant G/C snv 3.4E-03 2.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs201716527
rs201716527
1 1.000 0.040 20 25079487 missense variant T/C snv 7.6E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs267597889
rs267597889
1 1.000 0.040 20 25081705 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs56157240
rs56157240
1 1.000 0.040 20 25078745 synonymous variant A/T snv 0.26 0.30 0.010 1.000 1 2013 2013
dbSNP: rs6138482
rs6138482
1 1.000 0.040 20 25078806 missense variant C/G;T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs74315434
rs74315434
2 0.925 0.040 20 25079464 missense variant A/G;T snv 4.0E-06; 4.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs771561481
rs771561481
2 0.925 0.040 20 25078931 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2011 2011