Source: ALL
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: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 1.000 2 2014 2019
dbSNP: rs148704956
rs148704956
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T 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: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019
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 2019 2019
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 2019 2019
dbSNP: rs3764147
rs3764147
7 0.807 0.280 13 43883789 missense variant A/G snv 0.28 0.27 0.820 1.000 4 2009 2018
dbSNP: rs58744688
rs58744688
1 1.000 0.040 17 45230816 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs8057341
rs8057341
2 0.925 0.080 16 50704069 intron variant A/G snv 0.68 0.010 < 0.001 1 2018 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.030 1.000 3 2015 2017
dbSNP: rs1049432
rs1049432
2 0.925 0.040 10 58395360 3 prime UTR variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1937
rs1937
3 0.882 0.120 10 58385582 missense variant G/C snv 9.6E-02 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs28362807
rs28362807
1 1.000 0.040 1 27371297 intron variant -/TATTTGGCC ins 0.32 0.010 1.000 1 2017 2017
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2017 2017
dbSNP: rs4494157
rs4494157
1 1.000 0.040 1 27370346 intron variant G/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs532781899
rs532781899
2 0.925 0.040 1 27373180 frameshift variant G/- delins 1.6E-02 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs61756401
rs61756401
1 1.000 0.040 15 89329018 synonymous variant C/T snv 4.2E-03 2.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs3088362
rs3088362
1 1.000 0.040 13 43859494 intron variant C/A;T snv 0.710 1.000 3 2009 2016
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.810 1.000 3 2009 2016
dbSNP: rs10507522
rs10507522
1 1.000 0.040 13 43904864 intron variant A/G snv 0.11 0.710 1.000 2 2009 2016
dbSNP: rs2275606
rs2275606
2 0.925 0.040 6 146597814 intron variant G/A snv 7.7E-02 0.810 1.000 2 2011 2016
dbSNP: rs3762318
rs3762318
3 0.925 0.040 1 67131436 intron variant G/A snv 0.83 0.810 1.000 2 2011 2016
dbSNP: rs9533634
rs9533634
1 1.000 0.040 13 43823679 downstream gene variant T/C snv 0.53 0.710 1.000 2 2009 2016