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: rs779795819
rs779795819
2 0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs1205454520
rs1205454520
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs11721827
rs11721827
4 0.851 0.200 4 186069983 intron variant A/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs4147536
rs4147536
2 0.925 0.080 4 99317955 non coding transcript exon variant A/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs712
rs712
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs719725
rs719725
7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1017621656
rs1017621656
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs11832059
rs11832059
VDR
2 0.925 0.080 12 47879066 missense variant A/C;G snv 4.0E-06; 1.9E-03 0.010 1.000 1 2009 2009
dbSNP: rs11986055
rs11986055
3 0.882 0.080 8 42277660 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs3744400
rs3744400
2 0.925 0.080 17 7260404 synonymous variant A/C;G snv 4.1E-02; 8.0E-06; 4.0E-06 2.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs5273
rs5273
6 0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs730881756
rs730881756
2 0.925 0.080 2 47445653 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9365723
rs9365723
5 0.827 0.080 6 158014540 intron variant A/C;G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.938 32 2004 2019
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs3811802
rs3811802
2 0.925 0.080 4 99323064 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs629849
rs629849
9 0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 0.010 1.000 1 2012 2012
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs9869263
rs9869263
3 0.925 0.080 3 190312891 synonymous variant A/C;G;T snv 8.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 11 2003 2015
dbSNP: rs876658657
rs876658657
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.040 0.750 4 2008 2017