Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs528302390
PKD1L1
0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 9
rs121908601
ZFPM2
0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 4
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 4
rs751484586
PITX2
0.925 0.080 4 110618487 missense variant T/C snv 4.0E-06 3
rs61743125
PTCRA
0.882 0.080 6 42925677 missense variant G/A snv 2.0E-02 1.9E-02 3
rs202204708
ZFPM2-AS1 ; ZFPM2
0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04 3
rs147232392
ZIC3
0.882 0.240 X 137566740 missense variant G/A;T snv 2.6E-03 3
rs121434423
GDF1 ; CERS1
0.925 0.080 19 18868916 missense variant C/T snv 7.2E-06 2
rs7207109
HOXB1
1.000 0.080 17 48530455 synonymous variant C/T snv 0.18 0.18 2
rs796052728
MEF2C
1.000 0.080 5 88823746 missense variant G/A snv 2
rs771150933
MESP1
1.000 0.080 15 89750880 stop gained G/A snv 2
rs1274480565
TBX1
0.925 0.120 22 19761154 missense variant C/T snv 7.0E-06 2
rs201398331
ZIC3
0.925 0.120 X 137566789 missense variant C/T snv 1.1E-04 3.7E-05 2
rs397514521
ZFPM2-AS1 ; ZFPM2
1.000 0.080 8 105802291 missense variant A/G snv 1
rs397514520
ZFPM2 ; ZFPM2-AS1
1.000 0.080 8 105788866 missense variant T/G snv 1