Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs869312953
JAK1
0.851 0.120 1 64846735 missense variant G/T snv 5
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv 4
rs121912880
COL2A1
0.882 0.080 12 47986353 missense variant C/A;T snv 4
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 4
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554602465
CHD7
0.882 0.080 8 60845063 missense variant G/A snv 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv 4
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv 4
rs587777357
TUBB
0.925 6 30724263 missense variant G/A snv 4