Disease: Neonatal Hypotonia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14