Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6