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: rs12459350
rs12459350
DOT1L
3 0.925 0.200 19 2176587 intron variant A/G snv 0.46 0.010 < 0.001 1 2014 2014
dbSNP: rs1278279
rs1278279
ADAM12
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs16868943
rs16868943
COL11A2
3 1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs2267443
rs2267443
SREBF2
5 0.882 0.120 22 41891450 intron variant A/G snv 0.67 0.010 < 0.001 1 2014 2014
dbSNP: rs2397084
rs2397084
IL17F
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs631465
rs631465
F2RL1
1 1.000 0.040 5 76833228 synonymous variant T/C snv 0.92 0.95 0.010 < 0.001 1 2019 2019
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 < 0.001 1 2011 2011
dbSNP: rs8086340
rs8086340
TNFRSF11A
2 0.925 0.080 18 62339745 intron variant C/G snv 0.56 0.010 < 0.001 1 2019 2019
dbSNP: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.020 0.500 2 2018 2018
dbSNP: rs1871054
rs1871054
ADAM12
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.020 0.500 2 2017 2017
dbSNP: rs3740199
rs3740199
ADAM12
3 0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56 0.050 0.600 5 2012 2017
dbSNP: rs1044122
rs1044122
ADAM12
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.030 0.667 3 2014 2017
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.760 1.000 8 2011 2019
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.040 1.000 4 2019 2019
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.040 1.000 4 2019 2019
dbSNP: rs1078301
rs1078301
LOC105376225
1 1.000 0.040 9 114146866 intergenic variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.810 1.000 2 2010 2010
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.700 1.000 2 2018 2019
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.020 1.000 2 2019 2019
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2014 2018
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: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs10190094
rs10190094
AGAP1
1 1.000 0.040 2 235709582 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018