Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6