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: rs2149356
rs2149356
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.020 1.000 2 2015 2019
dbSNP: rs2239185
rs2239185
VDR
6 0.807 0.320 12 47850776 intron variant G/A snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs987106
rs987106
1 1.000 0.080 5 35875491 non coding transcript exon variant A/T snv 0.49 0.53 0.010 1.000 1 2015 2015
dbSNP: rs9695310
rs9695310
4 0.851 0.120 9 32464137 intron variant G/C snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs11820062
rs11820062
3 0.925 0.120 11 65662465 5 prime UTR variant T/C snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs1063499
rs1063499
C7
2 0.925 0.120 5 40955459 missense variant G/C snv 0.58 0.52 0.010 1.000 1 2018 2018
dbSNP: rs4075184
rs4075184
1 1.000 0.080 1 25564344 non coding transcript exon variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1013151
rs1013151
1 1.000 0.080 X 12914412 intron variant C/T snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.030 1.000 3 2012 2016
dbSNP: rs1799987
rs1799987
10 0.763 0.200 3 46370444 intron variant A/G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs5744069
rs5744069
1 1.000 0.080 X 12916993 intron variant G/T snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs2248359
rs2248359
8 0.790 0.400 20 54174979 upstream gene variant C/T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs4898
rs4898
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.020 1.000 2 2013 2019
dbSNP: rs2111485
rs2111485
17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs4074
rs4074
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 < 0.001 1 2019 2019
dbSNP: rs696
rs696
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2005 2005
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.030 1.000 3 2014 2019
dbSNP: rs1800803
rs1800803
1 1.000 0.080 4 99574424 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs179012
rs179012
1 1.000 0.080 X 12883443 intron variant G/A snv 0.42 0.010 1.000 1 2014 2014