Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs1563005360
FLNC-AS1 ; FLNC
0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins 11
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 10
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8