Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv 10
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53