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: 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: rs13283416
rs13283416
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116539328 intron variant T/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs1330349
rs1330349
TNC ; DELEC1
1 1.000 0.040 9 115078463 intron variant G/A;C snv 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: 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: rs17887218
rs17887218
TGFBR3
2 0.925 0.040 1 91714361 intron variant C/T snv 4.0E-02 0.700 1.000 1 2018 2018
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: 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: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 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: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2010 2010
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: 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: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 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: 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: 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: rs3117582
rs3117582
BAG6 ; APOM
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs34687269
rs34687269
ASTN2
1 1.000 0.040 9 116721853 intron variant A/T snv 0.47 0.700 1.000 1 2019 2019
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: rs3774354
rs3774354
ITIH1
3 0.882 0.080 3 52783659 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3774355
rs3774355
ITIH1
1 1.000 0.040 3 52783762 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019
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: 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: rs4144502
rs4144502
CRADD
2 0.925 0.040 12 93787552 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019