Disease: Uranostaphyloschisis
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18