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: rs146486358
rs146486358
3 0.882 0.080 7 102205168 missense variant C/T snv 8.6E-04 3.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs1488864
rs1488864
4 0.851 0.080 11 6321099 intron variant T/G snv 0.80 0.010 1.000 1 2017 2017
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1541187
rs1541187
3 0.882 0.040 1 147579693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1545843
rs1545843
6 0.827 0.120 12 84170289 intron variant G/A snv 0.52 0.010 1.000 1 2013 2013
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: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs17236239
rs17236239
3 0.882 0.040 7 147885213 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs174697
rs174697
5 0.851 0.080 22 19966309 intron variant A/G snv 0.88 0.010 1.000 1 2012 2012
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2005 2005
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: rs195478
rs195478
2 0.925 0.040 6 115851928 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.010 < 0.001 1 2011 2011
dbSNP: rs2137947
rs2137947
3 0.882 0.040 3 4989276 downstream gene variant C/T snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs2199503
rs2199503
4 0.851 0.080 3 120059642 intron variant T/C snv 0.79 0.010 1.000 1 2015 2015
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: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2253206
rs2253206
6 0.851 0.080 2 207527254 intron variant A/G snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs2268666
rs2268666
1 1.000 0.040 6 146424952 intron variant C/T snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2273816
rs2273816
4 0.851 0.080 13 49719920 intron variant G/A;C snv 0.010 1.000 1 2012 2012