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: rs117018441
rs117018441
EP300
1 1.000 0.040 22 41157913 intron variant G/T snv 1.2E-02 0.710 1.000 1 2018 2018
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: rs2836618
rs2836618 		1 1.000 0.040 21 38676371 intergenic variant G/A;T snv 0.25 0.700 1.000 1 2019 2019
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: rs9977881
rs9977881
ERG
2 0.925 0.040 21 38635298 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.040 1.000 4 2007 2014
dbSNP: rs547181612
rs547181612
UQCC1
2 0.925 0.040 20 35371345 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs4252548
rs4252548
IL11
4 1.000 0.040 19 55368304 missense variant C/T snv 2.1E-02 1.8E-02 0.710 1.000 2 2018 2019
dbSNP: rs1800468
rs1800468
TGFB1 ; B9D2
4 0.851 0.160 19 41354682 3 prime UTR variant C/T snv 6.2E-02 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs75621460
rs75621460
TGFB1
3 0.882 0.040 19 41327879 intron variant G/A snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs7222178
rs7222178 		1 1.000 0.040 17 61574921 TF binding site variant T/A snv 0.26 0.700 1.000 2 2018 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: rs62063281
rs62063281
MAPT
1 1.000 0.040 17 45961419 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs8044769
rs8044769
FTO
6 0.851 0.200 16 53805223 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs9930333
rs9930333
FTO
7 0.882 0.120 16 53766065 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.040 0.750 4 2010 2018
dbSNP: rs12901372
rs12901372
SMAD3
1 1.000 0.040 15 67078168 intron variant C/A;G snv 0.700 1.000 2 2018 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: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 2019
dbSNP: rs7164503
rs7164503
ANP32A
2 0.925 0.040 15 68789051 intron variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.020 1.000 2 2008 2011
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: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.010 < 0.001 1 2008 2008