TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
Disease: Hypoplastic Left Heart 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: rs1554284604
rs1554284604 		0.882 0.120 7 35204478 frameshift variant G/- delins
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0