PRRX1, paired related homeobox 1, 5396

N. diseases: 134; N. variants: 11
Disease: Otocephaly ×
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: rs387906667
rs387906667 		1.000 0.080 1 170719822 missense variant T/C snv
CUI: C0265242
Disease: Otocephaly
Otocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs398122375
rs398122375 		1.000 0.080 1 170719747 frameshift variant A/-;AAAAA delins
CUI: C0265242
Disease: Otocephaly
Otocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0