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: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.060 1.000 6 2007 2016
dbSNP: rs28897672
rs28897672
12 0.756 0.214 17 43106487 missense variant A/C,G,T snp 3.2E-05 0.060 1.000 6 2003 2011
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.050 1.000 5 2011 2017
dbSNP: rs3218536
rs3218536
9 0.769 0.179 7 152648922 missense variant C/G,T snp 4.0E-06; 6.4E-02 4.9E-02 0.050 1.000 5 2005 2016
dbSNP: rs1042838
rs1042838
PGR
9 0.769 0.214 11 101062681 missense variant C/A,G snp 0.13; 4.0E-06 0.12 0.040 1.000 4 2001 2016
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.040 0.750 4 2002 2013
dbSNP: rs1801155
rs1801155
APC
31 0.657 0.393 5 112839514 missense variant T/A snp 2.0E-03; 8.0E-06 6.4E-04 0.040 0.750 4 1998 2000
dbSNP: rs2032582
rs2032582
54 0.602 0.500 7 87531302 missense variant A/C,T snp 0.54; 3.8E-02 0.64; 2.5E-02 0.040 1.000 4 2002 2013
dbSNP: rs3814113
rs3814113
4 0.878 0.107 9 16915023 intergenic variant T/C snp 0.41 0.810 1.000 4 2009 2013
dbSNP: rs10088218
rs10088218
3 0.878 0.107 8 128531703 intron variant G/A snp 0.12 0.810 1.000 3 2010 2013
dbSNP: rs11571833
rs11571833
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.720 1.000 3 2016 2017
dbSNP: rs144848
rs144848
14 0.724 0.250 13 32332592 missense variant A/C snp 0.28 0.22 0.030 0.667 3 2004 2015
dbSNP: rs1799950
rs1799950
5 0.821 0.143 17 43094464 missense variant T/C snp 4.7E-02 5.2E-02 0.030 1.000 3 1999 2009
dbSNP: rs1801133
rs1801133
86 0.533 0.714 1 11796321 missense variant G/A snp 0.31 0.26 0.030 1.000 3 2010 2014
dbSNP: rs2070074
rs2070074
12 0.744 0.286 9 34649445 missense variant A/G snp 9.2E-02 7.4E-02 0.030 0.667 3 1998 2004
dbSNP: rs61764370
rs61764370
16 0.692 0.250 12 25207290 3 prime UTR variant A/C snp 5.3E-02 0.030 1.000 3 2010 2011
dbSNP: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.030 1.000 3 2005 2016
dbSNP: rs1045485
rs1045485
26 0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02 0.020 1.000 2 2010 2011
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.020 1.000 2 2010 2012
dbSNP: rs1051740
rs1051740
29 0.647 0.429 1 225831932 missense variant T/C snp 0.32 0.28 0.020 1.000 2 2001 2011
dbSNP: rs10735810
rs10735810
VDR
17 0.692 0.357 12 47879112 start lost snp 0.020 1.000 2 2008 2011
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.020 1.000 2 2004 2016
dbSNP: rs1243180
rs1243180
5 0.821 0.143 10 21626690 intron variant T/A snp 0.22 0.810 1.000 2 2013 2015
dbSNP: rs1271572
rs1271572
15 0.715 0.357 14 64295199 intron variant A/C,T snp 1.6E-03; 0.59; 1.3E-04 0.020 1.000 2 2009 2011
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.020 1.000 2 2015 2016