ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
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: rs104894193
rs104894193
0.925 0.120 11 44275472 missense variant C/T snv 1.2E-05
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs869320717
rs869320717
0.925 0.120 11 44309772 frameshift variant C/- del
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0