TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
Disease: Right hypoplastic 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: C0344963
Disease: Right hypoplastic heart syndrome
Right hypoplastic heart syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0