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: rs1431315635
rs1431315635
3 0.882 0.120 6 26092928 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs143175221
rs143175221
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs1485766
rs1485766
3 0.882 0.120 4 176689730 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1682111
rs1682111
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs17580
rs17580
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.090 0.889 9 2001 2011
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.963 27 2000 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2071746
rs2071746
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2229113
rs2229113
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2005 2005
dbSNP: rs2234671
rs2234671
7 0.807 0.240 2 218164385 missense variant C/G snv 9.1E-02 0.11 0.010 1.000 1 2013 2013
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012
dbSNP: rs2289030
rs2289030
6 0.882 0.120 12 94834510 non coding transcript exon variant G/C snv 9.7E-02 6.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs2296651
rs2296651
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.040 1.000 4 2016 2018
dbSNP: rs2298839
rs2298839
AFP
2 0.925 0.080 4 73445127 splice region variant A/G;T snv 0.54 0.010 1.000 1 2010 2010