Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46