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: rs1013151
rs1013151
1 1.000 0.080 X 12914412 intron variant C/T snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1029153
rs1029153
1 1.000 0.080 10 44371698 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs1034713634
rs1034713634
1 1.000 0.080 3 42536097 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1049606
rs1049606
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1049807
rs1049807
1 1.000 0.080 17 36105270 missense variant A/G snv 0.22 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1051792
rs1051792
5 0.851 0.240 6 31411200 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2018 2018
dbSNP: rs1052020291
rs1052020291
1 1.000 0.080 8 11848075 missense variant G/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1063340
rs1063340
1 1.000 0.080 17 36088417 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1063478
rs1063478
1 1.000 0.080 6 32949767 missense variant C/T snv 0.15 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1063499
rs1063499
C7
2 0.925 0.120 5 40955459 missense variant G/C snv 0.58 0.52 0.010 1.000 1 2018 2018
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10766197
rs10766197
6 0.807 0.240 11 14900334 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs10814325
rs10814325
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10877012
rs10877012
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10945859
rs10945859
3 0.882 0.120 6 162721570 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs111200466
rs111200466
2 1.000 0.080 4 153684312 5 prime UTR variant CGGCTGCTCGGCGTTCTCTCAGG/- delins 0.17 0.010 1.000 1 2019 2019
dbSNP: rs111511318
rs111511318
1 1.000 0.080 5 156998817 intergenic variant C/A snv 2.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs11249006
rs11249006
1 1.000 0.080 1 24155984 3 prime UTR variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1126579
rs1126579
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018