ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Disease: PARIETAL FORAMINA 2 ×
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: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2000 2001
dbSNP: rs104894196
rs104894196 		1.000 0.120 11 44267585 missense variant C/G;T snv
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2000 2001
dbSNP: rs104894191
rs104894191 		1.000 0.120 11 44309645 stop gained G/A snv
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894192
rs104894192 		1.000 0.120 11 44275389 stop gained G/A snv
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894197
rs104894197 		1.000 0.120 11 44275505 stop gained G/A;T snv 2.0E-05
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387906325
rs387906325 		1.000 0.120 11 44309669 frameshift variant CGTCTTGCAG/- delins
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776614
rs587776614 		1.000 0.120 11 44275621 frameshift variant A/- del
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587777700
rs587777700 		1.000 0.120 11 44275479 missense variant G/A;C snv
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587777702
rs587777702 		1.000 0.120 11 44265105 frameshift variant GCACCGGGTC/AGTTGCCATCTCTGTTGAGATCTTAG delins
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0