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: rs1556770954
rs1556770954
RBM10
1.000 0.160 X 47169456 frameshift variant C/- del
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.700 1.000 2 2010 2011