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: rs201565523
rs201565523
3 0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs2227251
rs2227251
1 1.000 0.040 2 218401700 synonymous variant C/A;T snv 0.25 0.010 < 0.001 1 2002 2002
dbSNP: rs2227255
rs2227255
1 1.000 0.040 2 218403058 synonymous variant C/T snv 0.57 0.46 0.010 < 0.001 1 2002 2002
dbSNP: rs1344800847
rs1344800847
CR1
2 0.925 0.120 1 207569911 missense variant G/T snv 0.010 1.000 1 2004 2004
dbSNP: rs3738467
rs3738467
CR1
2 0.925 0.120 1 207552816 missense variant G/T snv 1.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs748009686
rs748009686
2 0.925 0.080 9 21206547 missense variant C/A;G snv 2.0E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs9298814
rs9298814
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2004 2004
dbSNP: rs35947132
rs35947132
10 0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs11575934
rs11575934
4 0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25 0.010 1.000 1 2007 2007
dbSNP: rs11575935
rs11575935
2 0.925 0.040 19 18063921 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2007 2007
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 < 0.001 1 2007 2007
dbSNP: rs375947
rs375947
2 1.000 0.040 19 18069641 missense variant A/G snv 0.29 0.29 0.010 1.000 1 2007 2007
dbSNP: rs401502
rs401502
2 0.925 0.040 19 18069603 missense variant C/A;G;T snv 0.28; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs772717932
rs772717932
2 1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2007 2008
dbSNP: rs5743278
rs5743278
3 0.882 0.080 16 50712085 missense variant C/G snv 3.2E-03 1.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs755850200
rs755850200
VDR
2 1.000 0.040 12 47846347 missense variant T/C snv 2.1E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs17722851
rs17722851
2 0.925 0.040 17 27783810 intron variant T/A snv 9.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1816702
rs1816702
6 0.827 0.120 4 153688371 non coding transcript exon variant T/C snv 0.79 0.010 1.000 1 2009 2009
dbSNP: rs34448891
rs34448891
2 0.925 0.160 2 218381927 upstream gene variant TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG delins 0.010 1.000 1 2009 2009
dbSNP: rs3731863
rs3731863
2 0.925 0.040 2 218387485 intron variant C/T snv 8.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs373950030
rs373950030
3 0.882 0.080 19 7744967 missense variant C/T snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs8073782
rs8073782
2 0.925 0.040 17 27807685 intron variant C/T snv 0.27 0.010 1.000 1 2009 2009