Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12