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: rs5882115
rs5882115
1 1.000 0.120 7 7233965 intron variant -/C delins 7.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2015 2015
dbSNP: rs4646
rs4646
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2019 2019
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 < 0.001 1 2015 2015
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2007 2007
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 2019 2019
dbSNP: rs9138
rs9138
12 0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.818 11 1997 2015
dbSNP: rs2738048
rs2738048
1 1.000 0.120 8 6965263 downstream gene variant A/G snv 0.28 0.810 1.000 4 2011 2015
dbSNP: rs3803800
rs3803800
7 0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64 0.830 1.000 4 2011 2017
dbSNP: rs17019602
rs17019602
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs2856717
rs2856717
2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.710 1.000 2 2014 2017
dbSNP: rs660895
rs660895
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.810 1.000 2 2011 2015
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2072392
rs2072392
BID
1 1.000 0.120 22 17743846 synonymous variant A/G snv 2.8E-02 4.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs3218977
rs3218977
6 0.807 0.240 2 102024739 3 prime UTR variant A/G snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs4288398
rs4288398
1 1.000 0.120 8 7024116 downstream gene variant A/G snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2018 2018
dbSNP: rs761991666
rs761991666
1 1.000 0.120 7 7234516 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7790522
rs7790522
1 1.000 0.120 7 7242918 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs859
rs859
6 0.807 0.200 15 81308981 3 prime UTR variant A/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs9275224
rs9275224
5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2014 2014