Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs878854991
SPAST
0.882 0.080 2 32141906 missense variant G/A snv 5
rs879253888
KIF1A
0.851 0.120 2 240783777 missense variant G/A snv 5
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/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
rs1555873985
KCNQ2 ; KCNQ2-AS1
0.925 20 63445322 missense variant G/A;C snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1556026984
HPRT1
0.925 0.120 X 134475194 missense variant G/C snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs796053361
STXBP1
0.925 0.040 9 127668160 missense variant G/A;T snv 4
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 4
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs1060501198
TP53
0.925 0.040 17 7674900 missense variant T/C;G snv 3
rs1064795935
COL4A1
1.000 13 110181389 missense variant C/T snv 3
rs1156904586
ATP8A2
1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs121907960
HEXA
1.000 0.120 15 72349148 inframe deletion GAA/- delins 3
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05 3
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins 3
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3