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: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.900 0.909 22 2007 2018
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.900 1.000 14 2007 2019
dbSNP: rs1800693
rs1800693
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.880 1.000 12 2009 2019
dbSNP: rs3135388
rs3135388
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.890 1.000 12 2007 2018
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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.900 10 2005 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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 2006 2019
dbSNP: rs12722489
rs12722489
3 0.882 0.160 10 6060049 intron variant C/T snv 0.11 0.850 1.000 7 2007 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: rs2300747
rs2300747
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.820 1.000 6 2009 2018
dbSNP: rs1335532
rs1335532
1 1.000 0.080 1 116558335 intron variant A/G snv 0.28 0.810 1.000 5 2009 2018
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: rs2857766
rs2857766
MOG
4 0.882 0.120 6 29666226 missense variant G/C snv 0.22 0.19 0.050 1.000 5 2002 2013
dbSNP: rs703842
rs703842
4 0.851 0.240 12 57768956 missense variant A/G snv 0.38 0.33 0.840 0.800 5 2009 2019
dbSNP: rs10492972
rs10492972
1 1.000 0.080 1 10293054 intron variant T/C snv 0.32 0.830 1.000 4 2008 2011
dbSNP: rs12368653
rs12368653
1 1.000 0.080 12 57739473 intron variant G/A;T snv 0.820 1.000 4 2009 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.040 0.750 4 2010 2014
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.040 0.750 4 2006 2019
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.040 1.000 4 2010 2015
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.730 1.000 4 2009 2020
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: rs2248359
rs2248359
8 0.790 0.400 20 54174979 upstream gene variant C/T snv 0.47 0.820 1.000 4 2011 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 0.750 4 2011 2019