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: 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: rs387906769
rs387906769
GATA4
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.710 1.000 1 2010 2010
dbSNP: rs387906818
rs387906818
GATA6
3 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014
dbSNP: rs56208331
rs56208331
GATA4
4 0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 0.710 1.000 1 2009 2009
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: rs1114167357
rs1114167357
TPM1
1 1.000 0.080 15 63042945 splice donor variant T/C snv 0.700 1.000 1 2017 2017
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: rs1857231
rs1857231 		1 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 0.700 1.000 1 2013 2013
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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 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: rs864622513
rs864622513
GDF1 ; CERS1
1 1.000 0.080 19 18868791 missense variant A/G snv 1.1E-03 1.1E-04 0.700 1.000 1 2007 2007
dbSNP: rs10080
rs10080
NRP1
1 1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50 0.010 1.000 1 2018 2018
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: rs115875978
rs115875978
ALDH1A2
1 1.000 0.080 15 58010691 missense variant C/A;T snv 5.9E-04; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1185861796
rs1185861796
GATA4
2 1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
3 0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2015 2015
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: rs139365823
rs139365823
MIR138-2
2 0.925 0.080 16 56858519 non coding transcript exon variant G/A;C;T snv 4.1E-06; 2.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs1448468136
rs1448468136
ZFPM2 ; ZFPM2-AS1
1 1.000 0.080 8 105802610 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs145895196
rs145895196
JAG1
2 0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03 0.010 1.000 1 2013 2013