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: 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: rs16924573
rs16924573
KIAA1217
1 1.000 0.040 10 24315964 intron variant G/A snv 8.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs1793937
rs1793937
COL2A1 ; LOC105369752
1 1.000 0.040 12 47981692 intron variant C/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs1793953
rs1793953
COL2A1
2 0.925 0.080 12 47999743 non coding transcript exon variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs201621853
rs201621853
IGFBP6
2 0.925 0.040 12 53100807 missense variant T/C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2095019
rs2095019
LINC01615
1 1.000 0.040 6 169164779 upstream gene variant A/C snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs2276454
rs2276454
COL2A1 ; LOC105369752
2 0.925 0.040 12 47982508 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2292657
rs2292657
GLI1
1 1.000 0.040 12 57466149 intron variant G/A snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs4076018
rs4076018
NGF ; NGF-AS1
1 1.000 0.040 1 115300189 intron variant A/T snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs422342
rs422342
LOC102723493
1 1.000 0.040 15 67055348 intron variant A/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs4633
rs4633
COMT ; MIR4761
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs470859
rs470859
GLT1D1
1 1.000 0.040 12 128912087 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs5030772
rs5030772
FASLG
7 0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02 0.010 1.000 1 2018 2018
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: rs77245812
rs77245812
MATN3 ; LOC101928222
3 0.882 0.040 2 20003169 missense variant G/A snv 1.5E-02 1.2E-02 0.010 1.000 1 2006 2006
dbSNP: rs7975253
rs7975253
ANAPC5
1 1.000 0.040 12 121375864 intron variant C/T snv 6.8E-02 0.010 1.000 1 2017 2017