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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 12 2002 2015
dbSNP: rs137852986
rs137852986
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 12 2005 2016
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 9 2005 2011
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: 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: rs3218536
rs3218536
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.050 0.800 5 2013 2016
dbSNP: rs3814113
rs3814113
5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.820 1.000 5 2009 2013
dbSNP: rs587781321
rs587781321
4 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 5 2014 2016
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: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 4 2002 2012
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.750 4 2013 2017
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 1.000 4 2003 2015
dbSNP: rs2072590
rs2072590
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.720 1.000 4 2010 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.250 4 2010 2015
dbSNP: rs397517201
rs397517201
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 4 2006 2010
dbSNP: rs587780226
rs587780226
4 0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 0.700 1.000 4 2016 2017
dbSNP: rs10088218
rs10088218
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.710 1.000 3 2010 2013
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: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 3 2005 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 1.000 3 2010 2012
dbSNP: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2016 2018
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 3 2001 2010
dbSNP: rs121909229
rs121909229
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 3 2001 2010
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 3 2005 2016