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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 0.917 12 2004 2019
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.100 1.000 11 2002 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.800 10 2003 2015
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.100 0.700 10 2005 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2008 2012
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2006 2013
dbSNP: rs12103
rs12103
3 0.925 0.040 1 1312114 synonymous variant T/A;C;G snv 0.56 0.800 1.000 3 2012 2017
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs1333407770
rs1333407770
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.030 1.000 3 2007 2016
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2007 2009
dbSNP: rs1545620
rs1545620
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.030 0.667 3 2006 2016
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.800 1.000 3 2012 2017
dbSNP: rs2289310
rs2289310
3 0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02 0.030 1.000 3 2007 2016
dbSNP: rs259964
rs259964
6 0.827 0.120 20 59249254 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs4845604
rs4845604
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.800 1.000 3 2012 2017
dbSNP: rs1020856343
rs1020856343
5 0.851 0.240 5 132393705 missense variant C/T snv 4.0E-06 0.020 1.000 2 2006 2010
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.810 1.000 2 2012 2016
dbSNP: rs10951982
rs10951982
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.020 1.000 2 2011 2015
dbSNP: rs11195128
rs11195128
2 1.000 0.040 10 110426390 downstream gene variant C/G;T snv 0.710 1.000 2 2014 2017
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.800 1.000 2 2012 2015
dbSNP: rs11742570
rs11742570
3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.020 0.500 2 2002 2008
dbSNP: rs11879191
rs11879191
2 1.000 0.040 19 10402235 intron variant G/A;C snv 0.800 1.000 2 2012 2017
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2001
dbSNP: rs1991866
rs1991866
3 8 129611859 intron variant G/A;C snv 0.800 1.000 2 2012 2017