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: 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: 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: 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: 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: 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: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 < 0.001 1 2011 2011
dbSNP: rs11547160
rs11547160
TCF7L1
1 1.000 0.040 2 85309292 missense variant G/A snv 4.2E-02 3.8E-02 0.010 1.000 1 2013 2013
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: rs11583641
rs11583641
COLGALT2
1 1.000 0.040 1 183937111 3 prime UTR variant C/A;T snv 0.22 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: rs11718863
rs11718863
COL6A4P1
3 0.882 0.080 3 15175196 non coding transcript exon variant A/G;T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs11730582
rs11730582
SPP1
10 0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37 0.010 < 0.001 1 2015 2015
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: rs12040949
rs12040949
RPRD2
1 1.000 0.040 1 150474986 3 prime UTR variant C/A;T 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
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