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: rs2276886
rs2276886
3 0.882 0.120 4 76007275 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2900180
rs2900180
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs370711144
rs370711144
1 1.000 15 81225649 missense variant G/A;T snv 2.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs7514229
rs7514229
1 1.000 1 173185165 3 prime UTR variant G/T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1179251
rs1179251
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2071400
rs2071400
TPO
3 0.882 0.120 2 1412867 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2227478
rs2227478
2 0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs28665122
rs28665122
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
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 2018 2018
dbSNP: rs2618431
rs2618431
2 0.925 0.120 8 11466955 intron variant A/G snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs4840568
rs4840568
BLK
4 0.882 0.160 8 11493510 intron variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2018 2018
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2018 2018
dbSNP: rs1061502
rs1061502
3 0.882 0.160 11 614318 missense variant T/C snv 0.25 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1131665
rs1131665
4 0.851 0.160 11 613208 missense variant T/C snv 0.25 0.33 0.010 1.000 1 2019 2019
dbSNP: rs12492609
rs12492609
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2069550
rs2069550
TG
2 0.925 0.120 8 132888141 synonymous variant T/C snv 0.58 0.60 0.010 1.000 1 2019 2019
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2019 2019