Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3729753
NKX2-5
1.000 0.040 5 173232938 synonymous variant C/G snv 9.9E-03 2.2E-03 3
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs12190287
TCF21
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 19
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv 7
rs764328696
TBX20
1.000 7 35248696 missense variant C/G;T snv 3
rs12156163
GATA4
8 11757260 intron variant C/G;T snv 1
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs387906769
GATA4
0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 7
rs6824295
STX18-AS1
0.851 0.120 4 4612553 intron variant C/T snv 0.20 6
rs199715380
CFC1
2 130597533 missense variant C/T snv 2
rs3999950
TBX20
7 35212128 intron variant C/T snv 1
rs773626580
GATA4
8 11758384 missense variant C/T snv 1.2E-05 7.0E-06 1
rs864321648
NKX2-5
5 173233153 missense variant C/T snv 1
rs864321704
GATA4
8 11758409 synonymous variant C/T snv 1
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 17
rs41291957
CARMN ; MIR145 ; MIR143
0.882 0.200 5 149428827 intron variant G/A snv 0.12 7
rs6489957
TBX5
0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02 4
rs143081213
RCAN1
1.000 0.040 21 34615168 upstream gene variant G/A snv 2.6E-02 2
rs149048873
RCAN1
1.000 0.040 21 34615146 upstream gene variant G/A snv 5.5E-02 2