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: rs10033029
rs10033029
1 1.000 0.040 4 86764643 missense variant T/C;G snv 9.4E-06; 8.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1034220998
rs1034220998
1 1.000 0.040 1 6339497 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2006 2006
dbSNP: rs1049253
rs1049253
4 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs1049430
rs1049430
1 1.000 0.040 9 17796670 3 prime UTR variant T/G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2003 2003
dbSNP: rs1052823
rs1052823
3 1.000 0.040 14 103137233 3 prime UTR variant G/A;C;T snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1052912
rs1052912
3 1.000 0.040 14 103137316 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1057519830
rs1057519830
3 1.000 0.040 7 55163737 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2012 2012
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2012 2012
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10900598
rs10900598
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs11016879
rs11016879
4 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 < 0.001 1 2007 2007
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 < 0.001 1 2007 2007
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs11515
rs11515
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 < 0.001 1 2014 2014
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2003 2003
dbSNP: rs11549467
rs11549467
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2003 2003
dbSNP: rs11573014
rs11573014
1 1.000 0.040 4 57111075 non coding transcript exon variant C/G snv 0.12 0.010 1.000 1 2010 2010