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: rs11067075
rs11067075
TBX5
1 12 114361761 intron variant C/A snv 1.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11665469
rs11665469
NFATC1
1 18 79454468 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1357911800
rs1357911800
SALL4
1 20 51790094 missense variant T/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1383180
rs1383180
CRMP1 ; EVC
1 4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs151297824
rs151297824
SALL4
1 20 51791897 missense variant G/A snv 2.8E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs1701
rs1701
BAHCC1 ; MIR4740
1 17 81402198 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2164331
rs2164331
DARS1
1 2 135910326 intron variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs309143
rs309143
DARS1
1 2 135956608 intron variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs3762977
rs3762977
ISL1 ; LOC642366
1 5 51383180 non coding transcript exon variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs540578824
rs540578824
GATA4
1 8 11708800 missense variant C/G;T snv 2.1E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs6563
rs6563
NOTCH1
1 9 136494732 3 prime UTR variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs6738266
rs6738266
DARS1 ; DARS-AS1
1 2 135985602 5 prime UTR variant C/T snv 2.8E-02 2.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs703752
rs703752
NKX2-5
1 5 173232508 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs754505
rs754505
NFATC1 ; LOC101927897
1 18 79466368 intron variant G/A snv 5.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs755273705
rs755273705
EVC
1 4 5729349 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs756237060
rs756237060
HAND1
1 5 154477792 missense variant C/T snv 4.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs77693245
rs77693245
TBX18
1 6 84765153 upstream gene variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs866024579
rs866024579
NKX2-5
1 5 173232819 missense variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1565569158
rs1565569158
ATN1
4 12 6939148 missense variant A/G snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2017 2019
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