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: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.040 0.750 4 2010 2018
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.040 1.000 4 2007 2014
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.030 1.000 3 2006 2012
dbSNP: rs6976
rs6976
GNL3 ; GLT8D1
4 0.851 0.080 3 52694788 3 prime UTR variant C/T snv 0.38 0.33 0.710 1.000 3 2015 2019
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 0.030 1.000 3 2004 2009
dbSNP: rs9350591
rs9350591 		2 0.925 0.040 6 75531811 intergenic variant C/A;T snv 0.12 0.710 1.000 3 2015 2019
dbSNP: rs10492367
rs10492367 		3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 2 2018 2019
dbSNP: rs10843013
rs10843013 		1 1.000 0.040 12 27872263 intergenic variant A/C snv 0.15 0.700 1.000 2 2018 2018
dbSNP: rs10896015
rs10896015
LTBP3
1 1.000 0.040 11 65556254 intron variant G/A snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 2 2018 2019
dbSNP: rs121912891
rs121912891
COL2A1
5 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.020 1.000 2 2008 2010
dbSNP: rs12209223
rs12209223
FILIP1 ; LOC101928540
2 1.000 0.040 6 75454873 intron variant C/A snv 7.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs1241164
rs1241164
COL11A1
1 1.000 0.040 1 102890921 intron variant C/T snv 0.14 0.020 1.000 2 2014 2017
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.020 1.000 2 2008 2011
dbSNP: rs12901372
rs12901372
SMAD3
1 1.000 0.040 15 67078168 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2785988
rs2785988 		2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs4252548
rs4252548
IL11
4 1.000 0.040 19 55368304 missense variant C/T snv 2.1E-02 1.8E-02 0.710 1.000 2 2018 2019
dbSNP: rs4836732
rs4836732
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 2019
dbSNP: rs4907986
rs4907986
COL11A1
2 0.925 0.040 1 103084077 intron variant C/T snv 0.49 0.020 1.000 2 2014 2017
dbSNP: rs7222178
rs7222178 		1 1.000 0.040 17 61574921 TF binding site variant T/A snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 1.000 2 2018 2019
dbSNP: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10758594
rs10758594
GLIS3
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019