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: rs1057518828
rs1057518828
GFAP
1 1.000 0.040 17 44911317 missense variant T/G snv 0.700 0
dbSNP: rs1322331
rs1322331
LBX1
2 0.925 0.200 10 101226832 3 prime UTR variant A/C snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs202193096
rs202193096
TBX6
2 0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04 0.700 1.000 1 2015 2015
dbSNP: rs1057518789
rs1057518789
CREBBP
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs121918274
rs121918274
ROBO3
3 0.882 0.200 11 124870650 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs281865136
rs281865136
EGR2
3 0.882 0.120 10 62813562 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs864622273
rs864622273
EGR2
3 0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs10510181
rs10510181
CHL1-AS2
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs678741
rs678741
LBX1-AS1
4 0.851 0.200 10 101237824 intron variant G/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs1555216163
rs1555216163
MYF5
4 0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins 0.700 0
dbSNP: rs1565864693
rs1565864693
MYF5
4 0.851 0.160 12 80717346 missense variant C/T snv 0.700 0
dbSNP: rs786204875
rs786204875
PTEN
4 0.882 0.120 10 87960913 stop gained G/A;T snv 0.700 0
dbSNP: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs1085308052
rs1085308052
PTEN
5 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
dbSNP: rs1350968647
rs1350968647
MYH3
5 0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs763944786
rs763944786
RYR1
5 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs11190870
rs11190870 		6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs1057518812
rs1057518812
FBN1
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
6 0.925 0.040 X 136016706 frameshift variant GT/- delins 0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
6 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
dbSNP: rs1567564042
rs1567564042
MYH3
6 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0