Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins 9
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
rs1569148952
H2AP ; SYTL5
X 37991160 frameshift variant TG/- del 1
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs746040003
RASA3
13 114018810 frameshift variant TCAG/- delins 1.6E-05 1
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs1563293555
HOOK3
8 42930130 missense variant T/G snv 1
rs1567966432
LOC101927521 ; GREB1L
18 21383629 missense variant T/G snv 1
rs1568105562
FZD2
17 44559091 missense variant T/G snv 1
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05 4
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs143814221
GHR
0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 8
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 7
rs1555548680
STAT5B
1.000 0.120 17 42216066 missense variant T/C snv 5