Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131690789
rs1131690789
RBM10
1.000 X 47181316 frameshift variant AG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1131690789
rs1131690789
RBM10
1.000 X 47181316 frameshift variant AG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 0