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: rs111862418
rs111862418
TBX20
1 7 35204548 missense variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1345146178
rs1345146178
NKX2-5
1 5 173233003 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1346496644
rs1346496644
CCN1
1 1 85581440 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1390448535
rs1390448535
NOS3
1 7 151007245 missense variant C/G snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs147405081
rs147405081
TBX5
1 12 114366360 missense variant C/T snv 1.2E-03 4.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs199715380
rs199715380
CFC1
2 2 130597533 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs2579433
rs2579433
CFC1B
1 2 130522115 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs375349466
rs375349466
TLL1
1 4 166003545 missense variant A/G snv 8.0E-06 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs483352999
rs483352999
TBX20
1 7 35202590 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs753669213
rs753669213
LBX2
1 2 74498109 missense variant T/C snv 1.7E-04 1.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs768000961
rs768000961
CCNA2
1 4 121823490 missense variant G/A snv 8.1E-06 0.010 1.000 1 2015 2015
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 2006 2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2016 2016
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0