Disease: Muscular hypotonia of the trunk
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11