Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv 9
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 9
rs786201041
PTEN
0.776 0.160 10 87961119 splice donor variant G/A;C snv 9
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 8
rs199469464
SRCAP
0.807 0.200 16 30737370 stop gained C/T snv 8
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv 7
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 7
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins 7
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv 7
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs1131692154
SYNGAP1
0.925 0.160 6 33432700 stop gained C/T snv 6
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 6
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 6
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 6
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6