HESX1, HESX homeobox 1, 8820

N. diseases: 143; N. variants: 22
Disease: Growth Hormone Deficiency With Pituitary 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: rs1238248024
rs1238248024 		0.925 0.080 3 57198953 splice acceptor variant C/A;G snv
CUI: C2750027
Disease: Growth Hormone Deficiency With Pituitary Anomalies
Growth Hormone Deficiency With Pituitary Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2009
dbSNP: rs104893742
rs104893742 		0.882 0.160 3 57198405 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C2750027
Disease: Growth Hormone Deficiency With Pituitary Anomalies
Growth Hormone Deficiency With Pituitary Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0