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: rs4149584
rs4149584
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.100 0.909 11 2007 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.900 10 2005 2018
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.770 1.000 8 2009 2018
dbSNP: rs17824933
rs17824933
CD6
1 1.000 0.080 11 60993140 intron variant C/A;G snv 0.850 1.000 7 2009 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.050 0.600 5 2004 2015
dbSNP: rs12368653
rs12368653
1 1.000 0.080 12 57739473 intron variant G/A;T snv 0.820 1.000 4 2009 2018
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.040 0.250 4 2011 2013
dbSNP: rs3130253
rs3130253
MOG
3 0.925 0.120 6 29666235 missense variant A/G;T snv 0.95; 4.1E-06 0.040 1.000 4 1997 2020
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.040 1.000 4 2015 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.500 4 2007 2019
dbSNP: rs9657904
rs9657904
3 0.925 0.160 3 105867870 intron variant T/A;C snv 0.830 0.750 4 2010 2017
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.030 1.000 3 2009 2015
dbSNP: rs1077667
rs1077667
2 0.925 0.120 19 6668961 intron variant C/G;T snv 0.810 1.000 3 2011 2013
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.810 1.000 3 2011 2018
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.030 1.000 3 2007 2020
dbSNP: rs6062314
rs6062314
2 0.925 0.160 20 63778360 intron variant C/G;T snv 0.810 1.000 3 2011 2019
dbSNP: rs802734
rs802734
7 0.827 0.280 6 127957653 intergenic variant A/G;T snv 0.800 1.000 3 2011 2019
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 1.000 3 2007 2013
dbSNP: rs1061581
rs1061581
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs10876994
rs10876994
2 0.925 0.120 12 57670954 upstream gene variant A/C;T snv 0.710 1.000 2 2009 2015
dbSNP: rs12025416
rs12025416
1 1.000 0.080 1 116495665 intron variant T/A;C snv 0.800 1.000 2 2009 2011
dbSNP: rs140522
rs140522
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.800 1.000 2 2011 2019
dbSNP: rs1920296
rs1920296
2 1.000 0.080 3 121824730 intron variant A/C;G snv 0.700 1.000 2 2013 2016
dbSNP: rs2227956
rs2227956
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.710 1.000 2 2010 2016
dbSNP: rs2681424
rs2681424
1 1.000 0.080 3 122050675 upstream gene variant T/A;C snv 0.800 1.000 2 2011 2016