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: rs2104772
rs2104772
TNC ; DELEC1
2 0.925 0.080 9 115046506 missense variant T/A snv 0.44 0.47 0.030 1.000 3 2013 2018
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.030 1.000 3 2009 2019
dbSNP: rs1138545
rs1138545
TNC ; DELEC1
2 1.000 9 115073620 missense variant C/A;T snv 0.12 0.020 1.000 2 2017 2018
dbSNP: rs2779249
rs2779249
NOS2
7 0.851 0.200 17 27801555 intron variant C/A snv 0.33 0.020 1.000 2 2012 2020
dbSNP: rs4789932
rs4789932 		1 1.000 17 78928193 upstream gene variant G/A;C snv 0.020 1.000 2 2019 2019
dbSNP: rs591058
rs591058
MMP3
3 0.882 0.160 11 102840607 intron variant T/C snv 0.58 0.57 0.020 1.000 2 2009 2017
dbSNP: rs650108
rs650108
MMP3
6 0.827 0.160 11 102838056 intron variant G/A snv 0.31 0.020 1.000 2 2009 2017
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1061494
rs1061494
TNC ; DELEC1
1 1.000 9 115084301 missense variant T/C snv 0.45 0.48 0.010 1.000 1 2018 2018
dbSNP: rs1249744
rs1249744
COL27A1
1 1.000 9 114281072 intron variant A/G snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs12722
rs12722
COL5A1 ; LOC101448202
6 0.882 0.120 9 134842570 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs1330363
rs1330363
TNC ; DELEC1
1 1.000 9 115051711 intron variant C/T snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs13321
rs13321
TNC ; DELEC1
1 1.000 9 115030304 missense variant C/G snv 0.68 0.71 0.010 1.000 1 2013 2013
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 2011 2011
dbSNP: rs1799907
rs1799907
COL11A2
1 1.000 6 33185058 splice region variant A/G;T snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2012 2012
dbSNP: rs1937810
rs1937810
MPP7
1 1.000 10 28175021 intron variant T/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs207137
rs207137 		1 1.000 1 55347080 intron variant G/A snv 9.6E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs2241671
rs2241671
COL27A1
1 1.000 9 114168819 missense variant G/A;T snv 0.41; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2248814
rs2248814
NOS2
1 1.000 17 27773295 intron variant A/C;G snv 0.65 0.010 < 0.001 1 2020 2020
dbSNP: rs2567705
rs2567705
COL27A1
1 1.000 9 114169386 missense variant A/G;T snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs3196378
rs3196378
COL5A1 ; LOC101448202
4 0.882 0.080 9 134843036 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2012 2012
dbSNP: rs384129
rs384129
GAS2
2 0.925 0.160 11 22670928 intron variant T/A snv 0.010 1.000 1 2012 2012