MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
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: rs104893895
rs104893895 		0.882 0.160 5 174729222 missense variant C/A;T snv
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.840 1.000 7 1993 2013
dbSNP: rs104893896
rs104893896 		1.000 0.120 5 174729294 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2000 2000
dbSNP: rs4242182
rs4242182 		5 174729165 missense variant T/A;C;G snv 4.0E-06; 0.88; 1.2E-05
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs104893895
rs104893895 		0.882 0.160 5 174729222 missense variant C/A;T snv
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: rs121912971
rs121912971 		1.000 0.120 5 174724924 stop gained GC/TA mnv
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121912972
rs121912972 		1.000 0.120 5 174725003 frameshift variant G/- delins
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1561643029
rs1561643029 		1.000 0.160 5 174729283 frameshift variant -/ATTG delins
CUI: C1868597
Disease: Parietal Foramina With Cleidocranial Dysplasia
Parietal Foramina With Cleidocranial Dysplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1561643060
rs1561643060 		1.000 0.120 5 174729324 frameshift variant AGACCCAG/- delins
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104893895
rs104893895 		0.882 0.160 5 174729222 missense variant C/A;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1996 1996
dbSNP: rs4242182
rs4242182 		5 174729165 missense variant T/A;C;G snv 4.0E-06; 0.88; 1.2E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011