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: rs185229225
rs185229225
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913322
rs121913322
4 0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04 0.700 0
dbSNP: rs121964872
rs121964872
3 0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04 0.700 0
dbSNP: rs80357522
rs80357522
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs80357678
rs80357678
5 0.851 0.200 17 43091614 frameshift variant AA/- del 0.700 0
dbSNP: rs864622149
rs864622149
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
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 2010 2014
dbSNP: rs3218536
rs3218536
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.070 0.857 7 2005 2016
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.060 1.000 6 2009 2018
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.050 1.000 5 2007 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2007 2015
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.050 0.600 5 2013 2017
dbSNP: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.050 1.000 5 2011 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 1.000 4 2012 2015
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 0.750 4 2003 2015
dbSNP: rs1799950
rs1799950
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.040 1.000 4 1999 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.250 4 2010 2015
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.030 1.000 3 2001 2015
dbSNP: rs1271572
rs1271572
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.030 1.000 3 2009 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 1.000 3 2006 2013
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2013 2018
dbSNP: rs28897672
rs28897672
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.030 1.000 3 2006 2010
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2014 2015
dbSNP: rs5918
rs5918
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.030 0.667 3 2005 2010