UPF1, UPF1 RNA helicase and ATPase, 5976

N. diseases: 38; N. variants: 3
Disease: Heterotaxy 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: rs768027510
rs768027510 		1.000 0.120 19 18868666 frameshift variant AGAA/- delins 5.4E-06; 6.5E-05 4.9E-05
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0