MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Transposition of the Great Arteries, Dextro-Looped 1 ×
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: rs1565997261
rs1565997261 		1.000 0.080 12 115991433 frameshift variant TAG/A delins
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0