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: rs2572431
rs2572431
2 1.000 0.040 8 11247568 downstream gene variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2740210
rs2740210
7 0.827 0.120 20 3072609 downstream gene variant C/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs4813627
rs4813627
2 1.000 0.040 20 3074867 downstream gene variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs7766029
rs7766029
7 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.030 1.000 3 2011 2019
dbSNP: rs2180619
rs2180619
3 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 0.020 1.000 2 2009 2014
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.020 1.000 2 2013 2015
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs2236418
rs2236418
6 0.882 0.120 10 26216567 upstream gene variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs2235632
rs2235632
3 1.000 0.040 16 1343019 splice region variant G/A snv 0.46 0.42 0.010 1.000 1 2013 2013
dbSNP: rs57875989
rs57875989
7 0.882 0.080 1 7829913 splice acceptor variant GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC delins 0.11 0.18 0.010 1.000 1 2018 2018
dbSNP: rs3219151
rs3219151
14 0.752 0.160 5 161701908 3 prime UTR variant C/T snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs11111
rs11111
5 0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11855560
rs11855560
1 15 40732105 3 prime UTR variant T/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2015 2015
dbSNP: rs41305272
rs41305272
6 0.851 0.120 15 67807105 3 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7194256
rs7194256
7 0.827 0.120 16 55703779 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017