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: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 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: rs835487
rs835487
CHST11
2 0.925 0.040 12 104666989 intron variant A/G snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs835488
rs835488
CHST11
1 1.000 0.040 12 104667230 intron variant C/T snv 0.41 0.010 1.000 1 2016 2016
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: 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: rs2126643
rs2126643
COL11A1
1 1.000 0.040 1 102938828 intron variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
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: rs4338381
rs4338381
COL11A1
2 1.000 0.040 1 103107371 intron variant A/C;G snv 0.700 1.000 1 2019 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: 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: rs7533552
rs7533552
COL9A2
3 0.882 0.160 1 40307477 missense variant T/A;C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs11583641
rs11583641
COLGALT2
1 1.000 0.040 1 183937111 3 prime UTR variant C/A;T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs4144502
rs4144502
CRADD
2 0.925 0.040 12 93787552 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
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: 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: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs117018441
rs117018441
EP300
1 1.000 0.040 22 41157913 intron variant G/T snv 1.2E-02 0.710 1.000 1 2018 2018
dbSNP: rs9977881
rs9977881
ERG
2 0.925 0.040 21 38635298 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs3884606
rs3884606
FGF18
2 0.925 0.040 5 171444070 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
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: 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