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: rs16835979
rs16835979
STX18-AS1
6 0.851 0.120 4 4633549 intron variant C/A snv 0.20 0.710 1.000 2 2013 2015
dbSNP: rs6824295
rs6824295
STX18-AS1
6 0.851 0.120 4 4612553 intron variant C/T snv 0.20 0.710 1.000 2 2013 2015
dbSNP: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.710 1.000 2 2013 2015
dbSNP: rs76216585
rs76216585
POC1B
9 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.700 1.000 3 2014 2014
dbSNP: rs10503425
rs10503425
GATA4
1 8 11748855 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1060499547
rs1060499547
ABL1
4 1.000 9 130862890 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs113049875
rs113049875
GATA4
1 8 11755236 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs116052854
rs116052854
GATA4
1 8 11757212 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12156163
rs12156163
GATA4
1 8 11757260 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12458
rs12458
GATA4 ; C8orf49
1 8 11759731 3 prime UTR variant A/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs147860174
rs147860174
GATA4
1 8 11750261 intron variant G/A snv 5.3E-03 5.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs1554498312
rs1554498312
GATA4
1 8 11754991 intron variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1554498708
rs1554498708
GATA4
1 8 11756909 non coding transcript exon variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs3729851
rs3729851
GATA4
1 8 11755333 intron variant G/A snv 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs3735819
rs3735819
GATA4
1 8 11748803 intron variant T/C snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs549543886
rs549543886
GATA4 ; C8orf49
1 8 11759643 3 prime UTR variant T/C snv 2.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs745379
rs745379
GATA4
1 8 11758186 intron variant A/G snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs804290
rs804290
GATA4 ; C8orf49
1 8 11759327 3 prime UTR variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs864321645
rs864321645
NKX2-5
1 5 173233210 splice acceptor variant C/A snv 0.700 0
dbSNP: rs864321648
rs864321648
NKX2-5
1 5 173233153 missense variant C/T snv 0.700 0
dbSNP: rs864321649
rs864321649
NKX2-5
1 5 173233101 missense variant G/A;T snv 0.700 0
dbSNP: rs864321650
rs864321650
NKX2-5
3 5 173234902 missense variant G/A;C snv 0.700 0