SH3PXD2B, SH3 and PX domains 2B, 285590

N. diseases: 96; N. variants: 7
Disease: Borrone Di Rocco Crovato syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs367543284
rs367543284 		0.925 0.200 5 172382035 splice donor variant C/T snv
CUI: C1859406
Disease: Borrone Di Rocco Crovato syndrome
Borrone Di Rocco Crovato syndrome 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0