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: rs1032128
rs1032128
TNFRSF11B
1 1.000 0.040 8 118939534 intron variant G/A snv 0.30 0.010 < 0.001 1 2019 2019
dbSNP: rs1052981
rs1052981
SFRP4 ; EPDR1
1 1.000 0.040 7 37906899 3 prime UTR variant G/A snv 0.70 0.010 < 0.001 1 2013 2013
dbSNP: rs11807350
rs11807350
ADAMTS4
1 1.000 0.040 1 161191145 missense variant C/T snv 3.1E-04 4.7E-04 0.010 < 0.001 1 2016 2016
dbSNP: rs1278279
rs1278279
ADAM12
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs17039192
rs17039192
EPAS1
4 0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1905786
rs1905786
TNFRSF11B
2 1.000 0.040 8 118939453 intron variant T/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1940475
rs1940475
MMP8
4 1.000 0.040 11 102722517 missense variant T/C;G snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs2276454
rs2276454
COL2A1 ; LOC105369752
2 0.925 0.040 12 47982508 synonymous variant G/A snv 0.39 0.38 0.010 < 0.001 1 2011 2011
dbSNP: rs2615977
rs2615977
COL11A1
3 0.925 0.080 1 102986836 intron variant A/C snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs4233367
rs4233367
ADAMTS4
2 0.925 0.040 1 161193247 missense variant T/A;C snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs479632
rs479632
PITX1
1 1.000 0.040 5 135028828 missense variant C/G snv 0.29 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.030 0.333 3 2008 2018
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.020 0.500 2 2010 2011
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: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 0.500 2 2018 2019
dbSNP: rs2830585
rs2830585
ADAMTS5
2 1.000 0.040 21 26932893 missense variant C/T snv 0.12 0.12 0.020 0.500 2 2016 2019
dbSNP: rs7775228
rs7775228 		7 0.790 0.360 6 32690302 TF binding site variant T/C snv 0.15 0.020 0.500 2 2010 2011
dbSNP: rs226794
rs226794
ADAMTS5
3 0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89 0.030 0.667 3 2008 2019
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: rs7639618
rs7639618
COL6A4P1
3 0.882 0.080 3 15174922 non coding transcript exon variant C/T snv 0.22 0.18 0.030 0.667 3 2009 2016
dbSNP: rs8044769
rs8044769
FTO
6 0.851 0.200 16 53805223 intron variant T/A;C;G snv 0.030 0.667 3 2014 2018
dbSNP: rs1871054
rs1871054
ADAM12
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.040 0.750 4 2009 2017
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: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.100 0.880 25 2007 2019
dbSNP: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.040 1.000 4 2018 2018