ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: HOLOPROSENCEPHALY 2 (disorder) ×
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: rs397515499
rs397515499 		1.000 0.120 13 99983000 frameshift variant G/- del
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0