Disease: Generalized hypotonia
Source: ALL
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
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7