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: rs4733781
rs4733781
1 1.000 0.040 8 130284521 intron variant A/C snv 0.29 0.740 1.000 4 2015 2019
dbSNP: rs1449626
rs1449626
1 1.000 0.040 11 47269208 5 prime UTR variant A/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2020 2020
dbSNP: rs2243268
rs2243268
IL4
3 0.882 0.040 5 132678271 intron variant A/C snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs4262994
rs4262994
2 1.000 0.040 17 37591398 intron variant A/C snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2013 2019
dbSNP: rs12654043
rs12654043
1 1.000 0.040 5 150846533 5 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2723176
rs2723176
4 0.851 0.200 2 112914932 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3948464
rs3948464
1 1.000 0.040 2 230185999 missense variant A/C;G snv 8.0E-06; 0.89 0.010 1.000 1 2012 2012
dbSNP: rs755017
rs755017
2 0.925 0.080 20 63790269 synonymous variant A/C;G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs755508039
rs755508039
1 1.000 0.040 6 159907236 missense variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs9298814
rs9298814
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2004 2004
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2013 2013
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: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs9268494
rs9268494
3 0.882 0.200 6 32407575 non coding transcript exon variant A/C;T snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs10956514
rs10956514
1 1.000 0.040 8 130240512 intron variant A/G snv 0.37 0.040 0.250 4 2015 2018
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.040 1.000 4 2008 2014
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2019 2020
dbSNP: rs3742330
rs3742330
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.020 1.000 2 2013 2018
dbSNP: rs3764880
rs3764880
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.020 1.000 2 2008 2018
dbSNP: rs3811047
rs3811047
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.020 0.500 2 2016 2017