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: rs2280788
rs2280788
2 0.925 0.040 17 35880401 5 prime UTR variant G/C snv 2.0E-02 0.020 1.000 2 2011 2013
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: rs3748067
rs3748067
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.020 1.000 2 2016 2017
dbSNP: rs4736958
rs4736958
1 1.000 0.040 8 41261978 3 prime UTR variant T/C snv 3.6E-02 0.020 1.000 2 2016 2016
dbSNP: rs5743596
rs5743596
4 0.882 0.120 4 38800907 5 prime UTR variant G/A snv 0.12 0.020 1.000 2 2018 2018
dbSNP: rs5743604
rs5743604
3 0.925 0.040 4 38799664 intron variant A/G snv 0.36 0.020 1.000 2 2018 2019
dbSNP: rs6695096
rs6695096
1 1.000 0.040 1 11034982 intron variant C/A;T snv 0.020 1.000 2 2014 2015
dbSNP: rs776746
rs776746
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.020 1.000 2 2012 2015
dbSNP: rs10051924
rs10051924
1 1.000 0.040 5 150847077 5 prime UTR variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1017281
rs1017281
1 1.000 0.040 8 130234967 intron variant G/A snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
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: rs10490571
rs10490571
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs10500804
rs10500804
2 0.925 0.040 11 14888727 intron variant T/G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs10507172
rs10507172
1 1.000 0.040 12 103949490 intron variant G/A snv 7.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs10507173
rs10507173
1 1.000 0.040 12 103950058 intron variant A/G snv 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs10514611
rs10514611
2 0.925 0.080 16 85921636 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1052632
rs1052632
MR1
2 0.925 0.080 1 181051094 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1052677
rs1052677
1 1.000 0.040 19 50382924 3 prime UTR variant C/G;T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1055229
rs1055229
2 1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2020 2020
dbSNP: rs1059225
rs1059225
1 1.000 0.040 10 79615230 3 prime UTR variant T/C snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs1061624
rs1061624
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2011 2011
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: rs1075309
rs1075309
1 1.000 0.040 2 5113465 intergenic variant C/T snv 0.20 0.800 1.000 1 2014 2014
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018