ARID1A, AT-rich interaction domain 1A, 8289

N. diseases: 341; N. variants: 22
Disease: Aortic coarctation ×
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: rs1557570794
rs1557570794 		0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0