Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs61751035
RPS6KC1
0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 6
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5