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: 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: rs1003887
rs1003887
3 0.882 0.240 19 17816591 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs10152450
rs10152450
1 1.000 0.120 15 68279141 intron variant T/G snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs10179648
rs10179648
1 1.000 0.120 2 43580926 intron variant C/T snv 0.70 0.700 1.000 1 2011 2011
dbSNP: rs10305420
rs10305420
2 0.925 0.160 6 39048860 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1038822
rs1038822
1 1.000 0.120 2 43511034 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10407022
rs10407022
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.030 0.333 3 2008 2019
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs1044386
rs1044386
1 1.000 0.120 19 4795277 3 prime UTR variant G/A snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs1045435
rs1045435
1 1.000 0.120 12 55972376 3 prime UTR variant G/C snv 0.15 0.010 1.000 1 2019 2019
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: rs1047233
rs1047233
2 0.925 0.200 19 17821381 synonymous variant T/A;C;G snv 0.30 0.37 0.010 1.000 1 2016 2016
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 0.333 3 2009 2014
dbSNP: rs10495960
rs10495960
1 1.000 0.120 2 48732893 missense variant G/A snv 0.18 0.14 0.010 1.000 1 2013 2013
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: rs10505648
rs10505648
1 1.000 0.120 8 136144207 intron variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs10514258
rs10514258
1 1.000 0.120 5 83575938 intron variant A/G snv 0.13 0.700 1.000 1 2011 2011
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: rs1056917
rs1056917
1 1.000 0.120 19 49016209 synonymous variant A/G snv 0.61 0.65 0.010 1.000 1 2019 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2002 2002
dbSNP: rs1062809
rs1062809
FST
1 1.000 0.120 5 53484261 missense variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.030 0.667 3 2015 2019
dbSNP: rs10739076
rs10739076
1 1.000 0.120 9 5440589 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10760321
rs10760321
1 1.000 0.120 9 124101917 TF binding site variant A/G snv 0.30 0.700 1.000 1 2015 2015