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: rs3753841
rs3753841
COL11A1
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2707466
rs2707466
WNT16
2 1.000 0.040 7 121339035 missense variant C/G;T snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs11096957
rs11096957
TLR10
8 0.790 0.160 4 38774870 missense variant T/G snv 0.42 0.41 0.010 1.000 1 2018 2018
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2008 2008
dbSNP: rs11177
rs11177
GNL3 ; PBRM1 ; SNORD19 ; SNORD136
4 0.851 0.080 3 52687289 missense variant G/A snv 0.38 0.33 0.700 1.000 1 2018 2018
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: rs678
rs678
ITIH1
2 1.000 0.040 3 52786965 missense variant A/G;T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs419598
rs419598
IL1RN
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2011 2011
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: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 < 0.001 1 2011 2011
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: 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: 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: rs1800468
rs1800468
TGFB1 ; B9D2
4 0.851 0.160 19 41354682 3 prime UTR variant C/T snv 6.2E-02 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs11547160
rs11547160
TCF7L1
1 1.000 0.040 2 85309292 missense variant G/A snv 4.2E-02 3.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 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: rs532464664
rs532464664
CHADL
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs143083812
rs143083812
SMO
1 1.000 0.040 7 129203569 missense variant C/T snv 4.1E-04 3.5E-04 0.710 1.000 1 2018 2018
dbSNP: rs752149020
rs752149020
CALM2
2 0.925 0.040 2 47176459 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2008 2008
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: 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