Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201442000
NKX2-5
0.925 0.080 5 173235019 missense variant T/C;G snv 1.3E-04; 4.1E-06 2
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 13
rs16939660
ALDH1A2
0.925 0.120 15 58010689 synonymous variant T/C snv 8.4E-03 1.5E-02 2
rs563655306
CITED2
0.925 0.080 6 139373371 missense variant T/C snv 3.2E-03 2.0E-03 2
rs1114167357
TPM1
1.000 0.080 15 63042945 splice donor variant T/C snv 1
rs6499100 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 1
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs1569484126
ATP6 ; COX2 ; COX1 ; ATP8
1.000 0.080 MT 6939 frameshift variant T/- delins 1
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs4841587
GATA4
1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 3
rs4841588
GATA4
1.000 0.080 8 11756716 non coding transcript exon variant G/T snv 0.19 3
rs368858287
GATA6
1.000 0.080 18 22200684 missense variant G/C;T snv 1.4E-05 1
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 4
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 4
rs1445910672
TBX1
1.000 0.080 22 19761255 stop gained G/A;T snv 1
rs139365823
MIR138-2
0.925 0.080 16 56858519 non coding transcript exon variant G/A;C;T snv 4.1E-06; 2.9E-05 2
rs1131695
JAG1
1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46 1
rs11066188
HECTD4
0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 7
rs372187772
PRODH ; DGCR6
1.000 0.080 22 18913477 stop gained G/A;C snv 9.8E-06; 4.9E-06 2
rs864321699
GATA4
1.000 0.080 8 11708337 missense variant G/A;C snv 2
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
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 17
rs387906816
GATA6
0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04 4