Source: ALL
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: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs1535989
rs1535989 		4 0.925 0.080 13 105370372 intergenic variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs719725
rs719725 		7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 < 0.001 1 2010 2010
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.020 1.000 2 2009 2013
dbSNP: rs104894194
rs104894194
AIP
4 0.925 11 67483198 stop gained C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs2276020
rs2276020
AIP ; MIR6752
2 1.000 0.120 11 67490085 missense variant C/G;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs10941112
rs10941112
AMACR ; C1QTNF3-AMACR
4 0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38 0.010 1.000 1 2007 2007
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.050 1.000 5 1999 2014
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1999 2007
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.020 1.000 2 2002 2003
dbSNP: rs1268298845
rs1268298845
APC
4 0.882 0.120 5 112780878 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs17503908
rs17503908
ATM ; C11orf65
2 1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 12 2005 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2005 2019
dbSNP: rs386834263
rs386834263
CACNA1D
1 3 53673113 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2010 2018
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs774679649
rs774679649
CRP
1 1 159713878 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs142163070
rs142163070
CYP11B1 ; GML
1 8 142877100 missense variant T/C snv 2.0E-04 4.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs4539
rs4539
CYP11B2 ; GML
4 0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 0.010 1.000 1 2005 2005