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: rs104894110
rs104894110
FOXE1 ; PTCSC2
8 0.776 0.280 9 97854108 missense variant C/T snv 0.020 1.000 2 1998 2002
dbSNP: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519583
rs1057519583
STN1
3 0.882 0.160 10 103900115 missense variant C/G snv 0.010 1.000 1 2019 2019
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
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: rs13041247
rs13041247
LOC102724968
5 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.010 < 0.001 1 2010 2010
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
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: rs144078282
rs144078282
CLPB
9 0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 0.700 0
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: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 2011 2011
dbSNP: rs1553547838
rs1553547838
SATB2
4 0.925 0.280 2 199328709 stop gained G/A snv 0.700 0
dbSNP: rs1554496813
rs1554496813
KMT2C
8 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
dbSNP: rs1555564126
rs1555564126
EFTUD2
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
13 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
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