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: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2012 2012
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2071676
rs2071676
CA9 ; ARHGEF39
4 0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2238135
rs2238135
VDR
4 0.882 0.160 12 47884407 intron variant C/G snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs2296241
rs2296241
CYP24A1
12 0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs3829078
rs3829078
CA9
6 0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs629849
rs629849
IGF2R
9 0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 0.010 1.000 1 2012 2012
dbSNP: rs8898
rs8898
CTSB
5 0.925 0.120 8 11845033 3 prime UTR variant T/C snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs991316
rs991316
LOC102723576
3 0.925 0.160 4 99401288 intergenic variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.333 3 2007 2013
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2012 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2011 2013
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 < 0.001 1 2013 2013
dbSNP: rs2046463
rs2046463
LOC105377555
3 1.000 0.080 4 176681548 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2013 2013
dbSNP: rs7664413
rs7664413
VEGFC ; LOC105377555
7 0.851 0.160 4 176687553 intron variant C/T snv 0.24 0.25 0.010 1.000 1 2013 2013
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.750 4 2013 2014
dbSNP: rs1406
rs1406
CCNE1
4 0.882 0.120 19 29824205 3 prime UTR variant C/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2014 2014
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs221236
rs221236 		2 1.000 0.120 7 157529938 downstream gene variant G/A snv 0.96 0.010 1.000 1 2014 2014