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: rs11264793
rs11264793
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs7522061
rs7522061
4 0.882 0.320 1 157698600 missense variant T/C;G snv 0.45 0.51 0.010 1.000 1 2020 2020
dbSNP: rs11264794
rs11264794
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs1064607
rs1064607
LPP
5 0.827 0.200 3 188877884 3 prime UTR variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs11150619
rs11150619
2 0.925 0.160 16 31365528 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1126616
rs1126616
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs12615793
rs12615793
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1362970
rs1362970
1 1.000 0.120 12 95658750 3 prime UTR variant C/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1369270
rs1369270
1 1.000 0.120 2 153179546 intron variant T/C snv 0.010 1.000 1 2019 2019
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: rs2296136
rs2296136
1 1.000 0.120 10 5887999 missense variant G/C;T snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3204008
rs3204008
1 1.000 0.120 14 51968341 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs372883
rs372883
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs3796283
rs3796283
LPP
4 0.851 0.200 3 188885163 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4597342
rs4597342
2 0.925 0.160 16 31332448 3 prime UTR variant T/A;C snv 0.010 1.000 1 2019 2019
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: rs6691569
rs6691569
1 1.000 0.120 1 157678308 3 prime UTR variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs7389
rs7389
1 1.000 0.120 11 118657756 3 prime UTR variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs843720
rs843720
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.010 1.000 1 2019 2019
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: 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: rs978056
rs978056
1 1.000 0.120 7 43339245 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1520220
rs1520220
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018