MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: PARIETAL FORAMINA 1 ×
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: 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: 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: 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