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: rs137853213
rs137853213
COL9A2
2 1 40307477 missense variant TG/CA mnv 0.700 1.000 1 1999 1999
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2012 2019
dbSNP: rs1121980
rs1121980
FTO
18 0.807 0.240 16 53775335 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1131568
rs1131568
TNFSF10
2 1.000 0.120 3 172505900 3 prime UTR variant T/C snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs1131580
rs1131580
TNFSF10
4 0.882 0.160 3 172505830 3 prime UTR variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11575248
rs11575248
STAT2
2 1.000 0.120 12 56342206 3 prime UTR variant G/T snv 4.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1254394380
rs1254394380
COL11A1
4 0.882 0.160 1 102888618 stop gained G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1437184398
rs1437184398
GPT2
4 0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06 0.010 1.000 1 2018 2018
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2016 2016
dbSNP: rs2228564
rs2228564
COL9A2
1 1 40307477 missense variant T/A;C;G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs61734651
rs61734651
COL9A3
6 0.882 0.280 20 62819980 missense variant C/T snv 4.7E-02 4.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs6422747
rs6422747
THBS2 ; LOC101929523
2 1.000 0.120 6 169229688 intron variant G/A snv 0.61 0.68 0.010 1.000 1 2018 2018
dbSNP: rs6422748
rs6422748
THBS2 ; LOC101929523
2 1.000 0.120 6 169229815 intron variant G/C snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2012 2012
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2012 2012
dbSNP: rs879373188
rs879373188
COL9A2
1 1 40307477 frameshift variant TG/A;C delins 0.010 1.000 1 2016 2016