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: 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: rs10896015
rs10896015
LTBP3
1 1.000 0.040 11 65556254 intron variant G/A snv 0.26 0.700 1.000 2 2018 2019
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: rs12209223
rs12209223
FILIP1 ; LOC101928540
2 1.000 0.040 6 75454873 intron variant C/A snv 7.3E-02 0.700 1.000 2 2018 2019
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: rs12901372
rs12901372
SMAD3
1 1.000 0.040 15 67078168 intron variant C/A;G snv 0.700 1.000 2 2018 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: 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: 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: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.700 1.000 1 2018 2018
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: rs10760442
rs10760442
LMX1B
2 1.000 0.040 9 126621621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
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: rs11105466
rs11105466
LOC105369890
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
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: rs115740542
rs115740542
H2AC6 ; H2BC4
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019
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: rs11732213
rs11732213
SLBP
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
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: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12193102
rs12193102
SUPT3H
2 0.925 0.040 6 45177665 intron variant C/G snv 0.33 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: 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