PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Disease: ANTERIOR SEGMENT DYSGENESIS 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: rs1411557416
rs1411557416 		0.925 0.080 10 102230767 frameshift variant CAGGGCCCCAGGCCCTG/-;CAGGGCCCCAGGCCCTGCAGGGCCCCAGGCCCTG delins 7.5E-05 2.8E-05
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2007 2014