Source: ALL
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: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs4794136
rs4794136
XYLT2
1 1.000 0.040 17 50356597 synonymous variant T/C snv 0.44 0.47 0.010 1.000 1 2006 2006
dbSNP: rs777761378
rs777761378
XYLT1
1 1.000 0.040 16 17141171 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs912428
rs912428
LRCH1
2 0.925 0.040 13 46593768 intron variant A/G snv 0.84 0.010 1.000 1 2006 2006
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2006 2007
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs4140564
rs4140564 		1 1.000 0.040 1 186755871 intergenic variant G/A snv 0.93 0.010 1.000 1 2008 2008
dbSNP: rs763810877
rs763810877
GPRC6A
1 1.000 0.040 6 116806885 missense variant T/C snv 1.2E-04 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.050 0.800 5 2005 2009
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.030 0.667 3 2005 2009
dbSNP: rs10980705
rs10980705
LPAR1
1 1.000 0.040 9 111040905 upstream gene variant C/T snv 0.18 0.020 0.500 2 2008 2009
dbSNP: rs11718863
rs11718863
COL6A4P1
3 0.882 0.080 3 15175196 non coding transcript exon variant A/G;T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12901404
rs12901404
RYR3
1 1.000 0.040 15 33783099 intron variant T/C snv 0.16 0.700 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs2276455
rs2276455
COL2A1 ; LOC105369752
1 1.000 0.040 12 47982354 intron variant G/A snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs3737548
rs3737548
COL2A1
1 1.000 0.040 12 47997633 synonymous variant G/A;T snv 8.1E-06; 0.21 0.010 1.000 1 2009 2009
dbSNP: rs7164503
rs7164503
ANP32A
2 0.925 0.040 15 68789051 intron variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.020 1.000 2 2008 2010
dbSNP: rs1062033
rs1062033
CYP19A1 ; MIR4713HG
1 1.000 0.040 15 51255741 5 prime UTR variant C/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2010 2010
dbSNP: rs11965969
rs11965969
COL10A1 ; NT5DC1
1 1.000 0.040 6 116131040 intron variant T/G snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs2287047
rs2287047
IL1R1
1 1.000 0.040 2 102157594 intron variant G/A snv 0.39 0.010 1.000 1 2010 2010