C1QTNF5, C1q and TNF related 5, 114902

N. diseases: 45; N. variants: 22
Disease: NANOPHTHALMOS 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: rs587776595
rs587776595 		0.925 0.120 11 119342978 frameshift variant GGG/-;GG;GGGG delins
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0