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: rs1230399
rs1230399
1 1.000 0.080 17 43768035 3 prime UTR variant C/T snv 0.66 0.020 1.000 2 2009 2018
dbSNP: rs2278729
rs2278729
1 1.000 0.080 2 101052395 intron variant G/A snv 0.25 0.810 1.000 2 2010 2017
dbSNP: rs2501431
rs2501431
1 1.000 0.080 1 23875153 synonymous variant G/A snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3003336
rs3003336
1 1.000 0.080 1 23874958 synonymous variant C/T snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs4237
rs4237
1 1.000 0.080 1 23787639 3 prime UTR variant G/A snv 0.64 0.020 0.500 2 2015 2019
dbSNP: rs10203122
rs10203122
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs104895278
rs104895278
1 1.000 0.080 12 6333469 missense variant C/T snv 2.3E-04 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs10832915
rs10832915
1 1.000 0.080 11 18269516 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1181712311
rs1181712311
1 1.000 0.080 19 35371499 missense variant C/T snv 1.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs11872467
rs11872467
1 1.000 0.080 18 9848005 intron variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12151790
rs12151790
1 1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs1255801434
rs1255801434
1 1.000 0.080 5 102438650 missense variant T/C snv 4.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs1256044
rs1256044
1 1.000 0.080 14 64267309 intron variant G/A snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs12775980
rs12775980
1 1.000 0.080 10 29570927 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12808199
rs12808199
1 1.000 0.080 11 39306409 intergenic variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs140121121
rs140121121
1 1.000 0.080 X 115629281 synonymous variant T/A snv 1.5E-02 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs1440203097
rs1440203097
1 1.000 0.080 2 96116013 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs145438594
rs145438594
VDR
1 1.000 0.080 12 47879073 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1471400
rs1471400
1 1.000 0.080 4 87853095 regulatory region variant G/A snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs147522958
rs147522958
1 1.000 0.080 11 64564318 missense variant G/A snv 4.9E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs16965654
rs16965654
1 1.000 0.080 17 27280666 non coding transcript exon variant G/A snv 1.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs17184557
rs17184557
1 1.000 0.080 18 69475621 intron variant T/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs17289263
rs17289263
1 1.000 0.080 9 14720363 synonymous variant T/C snv 9.2E-02 9.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1751492
rs1751492
1 1.000 0.080 1 65526942 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17651
rs17651
1 1.000 0.080 1 1014228 missense variant G/A;C snv 0.010 1.000 1 2012 2012