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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10498676
rs10498676
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs10500171
rs10500171
1 1.000 0.040 7 147183313 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1053972
rs1053972
1 1.000 0.040 19 50855373 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1060826
rs1060826
4 0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67 0.010 1.000 1 2009 2009
dbSNP: rs1064794245
rs1064794245
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs10732392
rs10732392
1 1.000 0.040 9 126633758 intron variant A/G snv 0.84 0.010 1.000 1 2011 2011
dbSNP: rs10877969
rs10877969
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs11080149
rs11080149
NF1 ; OMG
1 1.000 0.040 17 31296270 missense variant C/T snv 9.1E-02 8.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs11179000
rs11179000
2 0.925 0.040 12 71944848 intron variant A/T snv 0.31 0.010 < 0.001 1 2006 2006
dbSNP: rs111902263
rs111902263
1 1.000 0.040 17 30971417 missense variant G/A snv 1.2E-02 1.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1119032
rs1119032
1 1.000 0.040 5 140902846 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11191454
rs11191454
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs11191580
rs11191580
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs11585959
rs11585959
1 1.000 0.040 1 231697972 intron variant T/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1169089134
rs1169089134
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs118163237
rs118163237
2 0.925 0.160 22 24523679 missense variant G/A snv 1.9E-03 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs11885327
rs11885327
1 1.000 0.040 2 179703346 intron variant C/T snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs1202773
rs1202773
1 1.000 0.040 1 57938951 intron variant G/A snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs12035887
rs12035887
1 1.000 0.040 1 57003118 intron variant G/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs12336217
rs12336217
1 1.000 0.040 9 126637591 intron variant A/G snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs12456492
rs12456492
3 0.882 0.080 18 43093415 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs1246651989
rs1246651989
2 0.925 0.160 1 197435519 frameshift variant AG/- delins 4.0E-06 0.010 1.000 1 2010 2010