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: rs60890741
rs60890741
GSDMC
1 1.000 0.040 8 129756257 intron variant -/A;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs17524488
rs17524488
SPP1
4 0.925 0.040 4 87975555 non coding transcript exon variant -/G delins 0.010 1.000 1 2015 2015
dbSNP: rs532464664
rs532464664
CHADL
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs10843013
rs10843013 		1 1.000 0.040 12 27872263 intergenic variant A/C snv 0.15 0.700 1.000 2 2018 2018
dbSNP: rs11764536
rs11764536
HDAC9
1 1.000 0.040 7 18370370 intron variant A/C snv 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs17659798
rs17659798
LINC02742
2 0.925 0.040 11 28853450 intron variant A/C snv 0.24 0.700 1.000 1 2019 2019
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: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs4338381
rs4338381
COL11A1
2 1.000 0.040 1 103107371 intron variant A/C;G snv 0.700 1.000 1 2019 2019
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: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 2 2018 2019
dbSNP: rs10758594
rs10758594
GLIS3
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019
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: rs12901071
rs12901071
SMAD3
3 0.882 0.160 15 67078051 intron variant A/G snv 0.25 0.700 1.000 1 2018 2018
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: 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: rs1913707
rs1913707 		2 0.925 0.040 4 13037816 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs1997995
rs1997995
RUNX2
1 1.000 0.040 6 45406446 intron variant A/G snv 0.35 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: 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: rs3821262
rs3821262
TGFA
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs4630744
rs4630744
LTBP1
2 0.925 0.040 2 33236308 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs4733724
rs4733724
GSDMC
2 1.000 0.040 8 129711482 intron variant A/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs62063281
rs62063281
MAPT
1 1.000 0.040 17 45961419 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019