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: rs778139192
rs778139192
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0
dbSNP: rs11196218
rs11196218
2 0.925 0.160 10 113080735 intron variant G/A snv 0.25 0.020 < 0.001 2 2010 2012
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 < 0.001 2 2007 2008
dbSNP: rs757343
rs757343
VDR
6 0.807 0.360 12 47845892 intron variant C/T snv 0.12 0.020 < 0.001 2 2012 2019
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs10459247
rs10459247
1 1.000 0.120 12 56777732 intron variant T/C snv 0.21 0.010 < 0.001 1 2009 2009
dbSNP: rs10500204
rs10500204
3 0.882 0.160 19 7182952 intron variant A/C snv 0.25 0.010 < 0.001 1 2011 2011
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 < 0.001 1 2018 2018
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 < 0.001 1 2017 2017
dbSNP: rs10830962
rs10830962
7 0.851 0.160 11 92965261 upstream gene variant C/A;G;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs10876920
rs10876920
1 1.000 0.120 12 56782391 intron variant C/G;T snv 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs11466313
rs11466313
1 1.000 0.120 19 41355432 intron variant -/CTC;CTCATGTCCCTGCCCTCCCTCCTC delins 0.70 0.010 < 0.001 1 2015 2015
dbSNP: rs11668344
rs11668344
4 0.925 0.120 19 55322296 intron variant A/G snv 0.35 0.010 < 0.001 1 2015 2015
dbSNP: rs12495941
rs12495941
5 0.851 0.280 3 186850391 intron variant G/T snv 0.35 0.010 < 0.001 1 2017 2017
dbSNP: rs12529
rs12529
10 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 0.010 < 0.001 1 2015 2015
dbSNP: rs1569198
rs1569198
4 0.851 0.200 10 52316511 intron variant A/G snv 0.41 0.42 0.010 < 0.001 1 2011 2011
dbSNP: rs16909220
rs16909220
1 1.000 0.120 8 81483950 intron variant C/G snv 0.16 0.010 < 0.001 1 2009 2009
dbSNP: rs16909225
rs16909225
1 1.000 0.120 8 81484124 intron variant A/G snv 0.16 0.010 < 0.001 1 2009 2009
dbSNP: rs17008097
rs17008097
1 1.000 0.120 2 61295935 intron variant C/G snv 0.15 0.010 < 0.001 1 2015 2015
dbSNP: rs17008940
rs17008940
1 1.000 0.120 2 61391463 intron variant C/T snv 0.12 0.010 < 0.001 1 2015 2015
dbSNP: rs17300539
rs17300539
11 0.752 0.320 3 186841671 upstream gene variant G/A snv 5.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs1799941
rs1799941
11 0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 < 0.001 1 2015 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs1801276
rs1801276
3 0.882 0.160 2 226797205 missense variant C/G snv 1.4E-02 1.3E-02 0.010 < 0.001 1 2006 2006