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: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2012
dbSNP: rs1040411
rs1040411
3 1.000 0.120 6 106150148 intron variant G/A snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 < 0.001 1 2011 2011
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2011 2011
dbSNP: rs121964877
rs121964877
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2019 2019
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1800890
rs1800890
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs1801157
rs1801157
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2011 2011
dbSNP: rs182123615
rs182123615
7 0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs1860661
rs1860661
3 0.882 0.120 19 1650135 intron variant A/C;G snv 6.7E-06; 0.54 0.010 1.000 1 2014 2014
dbSNP: rs3135932
rs3135932
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2006 2006
dbSNP: rs3138053
rs3138053
10 0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs324011
rs324011
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs397507545
rs397507545
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs4946728
rs4946728
3 1.000 0.120 6 106142488 intron variant A/C snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs56302315
rs56302315
KDR
5 0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs649775
rs649775
3 0.882 0.120 6 33716536 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018