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: rs2847212
rs2847212 		2 0.925 0.040 11 60568491 intergenic variant C/T snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs62406718
rs62406718
BTNL8
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs2953013
rs2953013
NF1
2 0.925 0.040 17 31169325 intron variant C/A snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs6516886
rs6516886
RWDD2B
2 0.925 0.040 21 29021343 upstream gene variant A/T snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs754106
rs754106
LRCH1
1 1.000 0.040 13 46578520 intron variant C/T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2396502
rs2396502
RUNX2
1 1.000 0.040 6 45389962 intron variant A/C snv 0.63 0.700 1.000 1 2019 2019
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: rs302152
rs302152
HDAC9
1 1.000 0.040 7 18224045 intron variant A/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs568725
rs568725
NT5DC1
1 1.000 0.040 6 116109640 intron variant G/A snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs3771501
rs3771501
TGFA
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs2480930
rs2480930
TNC ; DELEC1
1 1.000 0.040 9 115080028 intron variant A/G snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2011 2011
dbSNP: rs7571789
rs7571789
TGFA
1 1.000 0.040 2 70487661 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
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: rs12470967
rs12470967
LOC729254
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
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: rs1470002
rs1470002
SMAD3
1 1.000 0.040 15 67177230 intron variant A/G snv 0.54 0.010 < 0.001 1 2018 2018
dbSNP: rs833058
rs833058 		3 0.925 0.120 6 43764117 regulatory region variant C/T snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs11059094
rs11059094
MLXIP
1 1.000 0.040 12 122122290 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2929451
rs2929451 		1 1.000 0.040 8 9227785 intron variant A/T snv 0.50 0.700 1.000 1 2019 2019
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: rs4836732
rs4836732
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 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: rs3821262
rs3821262
TGFA
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019