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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2013
dbSNP: rs104894073
rs104894073
GATA4
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs104894378
rs104894378
TBX5
6 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs104894381
rs104894381
TBX5
5 0.925 0.120 12 114401830 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs104894382
rs104894382
TBX5
4 0.925 0.120 12 114385522 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs1057518422
rs1057518422
TAB2
7 0.851 0.240 6 149378954 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs114878910
rs114878910
EXOSC3
4 0.882 0.080 9 37784894 stop gained G/A;C snv 8.6E-06; 3.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs11752813
rs11752813
GNMT ; CNPY3-GNMT
1 6 42960279 upstream gene variant C/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1176869
rs1176869
LOC105370467
1 14 40807221 intron variant C/G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs11895588
rs11895588
LRP1B
1 2 141204588 intron variant G/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 13 2001 2019
dbSNP: rs121912594
rs121912594
CPS1
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs12438477
rs12438477
MTHFS ; ST20-MTHFS
1 15 79885941 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1245314
rs1245314 		1 14 27023434 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1343372308
rs1343372308
MYH7 ; MHRT
2 14 23413792 missense variant C/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs145536528
rs145536528
SLU7
3 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs145687528
rs145687528
PBX3
1 9 125915818 missense variant C/T snv 7.2E-03 6.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs146189703
rs146189703
LOC105377552
2 1.000 0.080 4 175023930 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs1531070
rs1531070
MAML3
6 0.851 0.120 4 139874173 intron variant G/A snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2011 2011
dbSNP: rs17111230
rs17111230 		1 14 40922047 intergenic variant G/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.040 1.000 4 2006 2017
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 2007 2007