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: rs11066320
rs11066320
PTPN11
5 0.925 0.120 12 112468611 intron variant A/G snv 0.70 0.710 1.000 2 2012 2013
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs12519770
rs12519770
ADGRV1
1 1.000 0.080 5 90777460 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs17153694
rs17153694
GATA4
4 0.851 0.160 8 11730972 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs233716
rs233716
RPH3A
1 1.000 0.080 12 112602139 intron variant C/T snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs233722
rs233722
RPH3A
1 1.000 0.080 12 112593670 intron variant G/A snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs2388896
rs2388896
LINC02676
1 1.000 0.080 10 8912261 intron variant A/G snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs288979
rs288979
ROCK1
1 1.000 0.080 18 21031282 intron variant A/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs4771856
rs4771856
GPC5 ; GPC5-AS2
1 1.000 0.080 13 92342256 intron variant C/A snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs7982677
rs7982677
GPC5
1 1.000 0.080 13 92336070 intron variant C/A snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs1857231
rs1857231 		1 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 0.700 1.000 1 2013 2013
dbSNP: rs6499100
rs6499100 		1 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs1131695
rs1131695
JAG1
1 1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs372187772
rs372187772
PRODH ; DGCR6
2 1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs1445910672
rs1445910672
TBX1
1 1.000 0.080 22 19761255 stop gained G/A;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: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
dbSNP: rs104893902
rs104893902
NKX2-5
2 0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 0.700 1.000 3 1999 2003
dbSNP: rs104893904
rs104893904
NKX2-5
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.700 1.000 3 1999 2003
dbSNP: rs104893905
rs104893905
NKX2-5
2 0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 0.800 1.000 3 1999 2003