HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
Disease: Multiple congenital anomalies ×
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: rs1340611668
rs1340611668 		1 210348976 start lost A/G;T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2004 2014