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: rs10130587
rs10130587
BMP4
5 0.851 0.200 14 53952392 intron variant G/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs104893810
rs104893810
TGFBR2
7 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11624283
rs11624283 		3 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1332974507
rs1332974507
GREM1
2 0.925 0.120 15 32731180 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs140291094
rs140291094
STAC3
11 0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs146753226
rs146753226
SIX2
3 0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04 0.010 1.000 1 2020 2020
dbSNP: rs1474322770
rs1474322770
NKX2-1 ; SFTA3 ; NKX2-1-AS1
5 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs16260
rs16260
CDH1
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs17010021
rs17010021
LOXL3
3 0.882 0.200 2 74534412 missense variant T/A snv 8.2E-02 4.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs197204
rs197204
MCUB
4 0.851 0.200 4 109576918 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs201002930
rs201002930
WNT10A
6 0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2013162
rs2013162
IRF6
5 0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs2076056
rs2076056
JARID2
3 0.882 0.200 6 15487551 intron variant C/A;G;T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2124459
rs2124459
CBS
5 0.827 0.200 21 43055604 3 prime UTR variant T/C snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs2166975
rs2166975
TGFA
5 0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 0.010 1.000 1 2007 2007
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs2237138
rs2237138
JARID2
3 0.882 0.200 6 15463164 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2239907
rs2239907
SARM1 ; SLC46A1
5 0.851 0.200 17 28398728 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs2240307
rs2240307
AXIN2
3 0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2269529
rs2269529
MYH9 ; MIR6819
5 0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18 0.010 1.000 1 2018 2018
dbSNP: rs227493
rs227493 		3 0.882 0.200 6 165071698 intron variant A/T snv 1.7E-02 0.010 1.000 1 2018 2018