Disease: Muscle hypotonia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs531163149
MTSS2
1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs782304760
KDM2B
0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 4