Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16