MEOX1, mesenchyme homeobox 1, 4222

N. diseases: 55; N. variants: 3
Disease: Klippel Feil syndrome recessive type ×
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: rs1567750527
rs1567750527 		1.000 0.080 17 43661441 frameshift variant C/- delins
CUI: C1859209
Disease: Klippel Feil syndrome recessive type
Klippel Feil syndrome recessive type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs713993044
rs713993044 		1.000 0.080 17 43661285 stop gained G/A;T snv 4.0E-06
CUI: C1859209
Disease: Klippel Feil syndrome recessive type
Klippel Feil syndrome recessive type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs772798486
rs772798486 		1.000 0.080 17 43642011 stop gained G/A;T snv 4.0E-06; 8.0E-06
CUI: C1859209
Disease: Klippel Feil syndrome recessive type
Klippel Feil syndrome recessive type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0