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: rs201921722
rs201921722
3 0.925 0.040 11 123679999 downstream gene variant -/A delins 9.2E-06 0.700 1.000 1 2016 2016
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs34177316
rs34177316
3 0.925 0.040 4 40985283 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.050 1.000 5 2011 2017
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2008 2008
dbSNP: rs17673138
rs17673138
4 0.851 0.040 8 32840440 intron variant A/C snv 8.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs1549854
rs1549854
3 0.882 0.040 15 66404397 intron variant A/C;G snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs4810896
rs4810896
2 0.925 0.040 20 48918761 upstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs6883197
rs6883197
3 0.882 0.040 5 79695550 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs4713916
rs4713916
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7189979
rs7189979
3 0.925 0.040 16 12536330 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 < 0.001 2 2007 2008
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.040 0.500 4 2009 2011
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs10233018
rs10233018
2 0.925 0.040 7 117883655 non coding transcript exon variant A/G snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs10968749
rs10968749
4 0.851 0.040 9 28752486 intergenic variant A/G snv 5.5E-02 0.700 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 < 0.001 1 2012 2012
dbSNP: rs12555870
rs12555870
3 0.925 0.040 9 23347726 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs139438618
rs139438618
5 0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs140504
rs140504
3 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 0.010 1.000 1 2005 2005