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: 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: rs281865153
rs281865153 		1.000 11 44310044 missense variant C/A;G;T snv 1.4E-05; 4.6E-06; 4.6E-06
CUI: C3809819
Disease: CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO 		0.800 0
dbSNP: rs281865154
rs281865154 		1.000 11 44275494 missense variant T/C snv
CUI: C3809819
Disease: CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO 		0.800 0
dbSNP: rs267606653
rs267606653 		0.925 11 44267607 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2000 2012
dbSNP: rs267606653
rs267606653 		0.925 11 44267607 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2000 2012
dbSNP: rs10742700
rs10742700 		1.000 0.040 11 44278291 intron variant G/A snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10769025
rs10769025 		0.882 0.160 11 44267885 intron variant G/C snv 0.58
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs10769025
rs10769025 		0.882 0.160 11 44267885 intron variant G/C snv 0.58
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10769025
rs10769025 		0.882 0.160 11 44267885 intron variant G/C snv 0.58
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2013594
rs2013594 		1.000 0.040 11 44280604 intron variant T/C snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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: 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: rs267606653
rs267606653 		0.925 11 44267607 stop gained G/A snv
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		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: rs587777701
rs587777701 		1.000 11 44275452 missense variant G/C snv
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		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
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
dbSNP: rs869320717
rs869320717 		0.925 0.120 11 44309772 frameshift variant C/- del
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs869320717
rs869320717 		0.925 0.120 11 44309772 frameshift variant C/- del
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.700 0
dbSNP: rs876657391
rs876657391 		1.000 11 44275622 frameshift variant G/- delins
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.700 0