Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
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
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv 6