Disease: Muscle hypotonia
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10