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: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
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: 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: rs200203460
rs200203460
CLPB
9 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs786205508
rs786205508
MKS1
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs864309532
rs864309532
PHF6
7 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
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: rs104894110
rs104894110
FOXE1 ; PTCSC2
8 0.776 0.280 9 97854108 missense variant C/T snv 0.020 1.000 2 1998 2002
dbSNP: rs28937575
rs28937575
FOXE1 ; PTCSC2
4 0.851 0.280 9 97854084 missense variant G/A snv 0.010 1.000 1 2002 2002
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: rs104893810
rs104893810
TGFBR2
7 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
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: 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: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.010 < 0.001 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
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: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011