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: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2010 2010
dbSNP: rs2239704
rs2239704
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs765660823
rs765660823
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.020 1.000 2 2014 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 20 2006 2019
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1989969
rs1989969
VDR
8 0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs587782289
rs587782289
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs967461896
rs967461896
17 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1397529
rs1397529
4 0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1447295
rs1447295
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.020 0.500 2 2006 2008
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12296850
rs12296850
3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1340420
rs1340420
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015
dbSNP: rs143752852
rs143752852
1 3 49902723 missense variant A/G snv 8.8E-05 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs16906079
rs16906079
1 9 117712651 missense variant A/G snv 6.5E-04 4.3E-04 0.010 1.000 1 2006 2006
dbSNP: rs17429138
rs17429138
1 3 189527804 intergenic variant A/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs2168351
rs2168351
6 0.851 0.120 15 92440492 intron variant A/G snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2012 2012
dbSNP: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs3087386
rs3087386
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs33917957
rs33917957
MET
10 0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02 0.010 1.000 1 2005 2005