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: rs16826658
rs16826658
1 1.000 0.040 1 22159378 downstream gene variant T/G snv 0.32 0.750 1.000 6 2010 2020
dbSNP: rs6542095
rs6542095
1 1.000 0.040 2 112771606 downstream gene variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs12449465
rs12449465
1 1.000 0.040 17 3126260 downstream gene variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs4654783
rs4654783
1 1.000 0.040 1 22113027 downstream gene variant T/C snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2013 2020
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2012 2013
dbSNP: rs10282436
rs10282436
1 1.000 0.040 7 25833490 upstream gene variant G/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs1065780
rs1065780
1 1.000 0.040 7 45888078 upstream gene variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1448792
rs1448792
1 1.000 0.040 9 22641634 upstream gene variant A/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs1536309
rs1536309
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1550117
rs1550117
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1800907
rs1800907
3 0.925 0.120 7 142800425 upstream gene variant T/C snv 0.56 0.010 < 0.001 1 2011 2011
dbSNP: rs1995051
rs1995051
1 1.000 0.040 7 45885442 upstream gene variant A/G snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs2738113
rs2738113
1 1.000 0.040 8 6971563 upstream gene variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 < 0.001 1 2018 2018
dbSNP: rs591291
rs591291
1 1.000 0.040 11 65497011 upstream gene variant C/T snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs60966186
rs60966186
1 1.000 0.040 8 6973682 upstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs7907606
rs7907606
8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 < 0.001 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 2015 2015
dbSNP: rs10167914
rs10167914
1 1.000 0.040 2 112805784 TF binding site variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs13394619
rs13394619
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.833 6 2007 2016