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: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
3 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 0
dbSNP: rs876657934
rs876657934
NKX2-5
1 5 173233212 splice region variant G/C snv 0.700 0
dbSNP: rs879253817
rs879253817
CIT
4 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
dbSNP: rs727504412
rs727504412
JAG1
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
dbSNP: rs397516908
rs397516908
NKX2-5
1 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999
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: 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: rs2234584
rs2234584
WT1
5 0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs57920071
rs57920071
LMNA
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
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: rs121912594
rs121912594
CPS1
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
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
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: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2009 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2009 2017
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: 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: 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: 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: 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: 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: rs200478425
rs200478425
G6PC3
2 1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs2474937
rs2474937 		6 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 0.800 1.000 1 2013 2013