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: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs5743867
rs5743867
3 0.882 0.120 11 1307121 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs5743899
rs5743899
6 0.807 0.160 11 1302334 intron variant C/T snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs9271300
rs9271300
1 1.000 0.080 6 32613805 intergenic variant C/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs9272461
rs9272461
1 1.000 0.080 6 32637832 intron variant G/A snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs11003125
rs11003125
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.020 0.500 2 2017 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2017 2019
dbSNP: rs10065172
rs10065172
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 1.000 1 2017 2017
dbSNP: rs10421768
rs10421768
6 0.807 0.120 19 35281996 intron variant A/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs10499859
rs10499859
2 0.925 0.120 7 80629494 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs1050504
rs1050504
1 1.000 0.080 8 58583857 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1135791
rs1135791
2 0.925 0.080 2 230177560 missense variant A/G snv 0.42 0.40 0.010 < 0.001 1 2017 2017
dbSNP: rs1194182
rs1194182
2 1.000 0.080 7 80602188 5 prime UTR variant G/C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs12477677
rs12477677
2 1.000 0.080 2 207666398 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs12998782
rs12998782
3 0.882 0.160 2 118967804 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1327474
rs1327474
2 0.925 0.080 6 137219938 upstream gene variant C/T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs1327475
rs1327475
2 0.925 0.080 6 137215318 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2069705
rs2069705
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718
14 0.742 0.320 12 68156382 intron variant A/G;T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2239751
rs2239751
3 0.882 0.120 3 50610457 5 prime UTR variant T/G snv 9.6E-02 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs3211956
rs3211956
3 0.925 0.160 7 80674446 intron variant T/G snv 6.7E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs3859664
rs3859664
1 1.000 0.080 20 3691244 intron variant G/A snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2017 2017