Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
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
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20