Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs181317402
CERS1 ; GDF1
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 3
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs1565569158
ATN1
12 6939148 missense variant A/G snv 4
rs754369510
NUP214
0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06 3
rs309143
DARS1
2 135956608 intron variant A/G snv 0.19 1
rs3762977
ISL1 ; LOC642366
5 51383180 non coding transcript exon variant A/G snv 0.15 1
rs6563
NOTCH1
9 136494732 3 prime UTR variant A/G snv 0.51 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1057518868
FOXF1 ; FENDRR
0.925 0.080 16 86510849 missense variant A/T snv 3
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs1185861796
GATA4
1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 2
rs11067075
TBX5
12 114361761 intron variant C/A snv 1.2E-03 1
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs703752
NKX2-5
5 173232508 3 prime UTR variant C/A;G snv 1
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs1701
BAHCC1 ; MIR4740
17 81402198 non coding transcript exon variant C/A;G;T snv 1
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27