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: 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: 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: rs5009270
rs5009270 		1 1.000 0.040 7 112519123 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs835487
rs835487
CHST11
2 0.925 0.040 12 104666989 intron variant A/G snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs835488
rs835488
CHST11
1 1.000 0.040 12 104667230 intron variant C/T snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1241164
rs1241164
COL11A1
1 1.000 0.040 1 102890921 intron variant C/T snv 0.14 0.020 1.000 2 2014 2017
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: rs2707466
rs2707466
WNT16
2 1.000 0.040 7 121339035 missense variant C/G;T snv 0.44 0.010 1.000 1 2017 2017
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: 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: rs10843013
rs10843013 		1 1.000 0.040 12 27872263 intergenic variant A/C snv 0.15 0.700 1.000 2 2018 2018
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: 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: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10760442
rs10760442
LMX1B
2 1.000 0.040 9 126621621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11049193
rs11049193 		1 1.000 0.040 12 27842114 intergenic variant G/T snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs11096957
rs11096957
TLR10
8 0.790 0.160 4 38774870 missense variant T/G snv 0.42 0.41 0.010 1.000 1 2018 2018
dbSNP: rs11177
rs11177
GNL3 ; PBRM1 ; SNORD19 ; SNORD136
4 0.851 0.080 3 52687289 missense variant G/A snv 0.38 0.33 0.700 1.000 1 2018 2018
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: 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: rs11780978
rs11780978
PLEC
2 1.000 0.040 8 143960684 intron variant G/A snv 0.30 0.700 1.000 1 2018 2018
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: rs143083812
rs143083812
SMO
1 1.000 0.040 7 129203569 missense variant C/T snv 4.1E-04 3.5E-04 0.710 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