SH3PXD2B, SH3 and PX domains 2B, 285590

N. diseases: 96; N. variants: 7
Disease: Ter Haar 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: rs267607046
rs267607046 		1.000 0.160 5 172422445 missense variant G/A snv 1.2E-05
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.820 1.000 3 2010 2015
dbSNP: rs367543284
rs367543284 		0.925 0.200 5 172382035 splice donor variant C/T snv
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0
dbSNP: rs775217258
rs775217258 		1.000 0.160 5 172422498 splice acceptor variant T/G snv 4.1E-06
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0
dbSNP: rs794728005
rs794728005 		1.000 0.160 5 172422424 frameshift variant -/A delins 7.0E-06
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0
dbSNP: rs794728006
rs794728006 		1.000 0.160 5 172350406 frameshift variant C/- delins
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases 0.700 0