MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; 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: rs121908190
rs121908190 		1.000 0.080 11 119345516 missense variant A/G snv
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2005 2005
dbSNP: rs121908189
rs121908189 		1.000 0.080 11 119345538 stop gained G/A snv 4.0E-05 7.0E-06
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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
dbSNP: rs587776596
rs587776596 		0.925 0.120 11 119345563 frameshift variant G/-;GG delins 1.2E-04
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0