Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
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
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1553212545
POGZ
1.000 1 151406046 stop gained G/A snv 3
rs1553259529
MPZ
1.000 1 161306152 frameshift variant -/C delins 3
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins 3
rs1553666546
ITPR1
1.000 0.080 3 4645609 missense variant G/A snv 3
rs1554122252
SYNGAP1
1.000 6 33443341 frameshift variant CT/- delins 3
rs1554129039
PURA
1.000 5 140114334 frameshift variant A/- del 3
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1554884733
VPS13B
1.000 8 99641974 frameshift variant -/GTCC delins 3
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3