MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
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: rs111033578
rs111033578 		0.827 0.200 11 119339574 missense variant G/C snv
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		Eye Diseases 0.850 1.000 6 2003 2018
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: rs730882143
rs730882143 		1.000 0.120 11 119345569 frameshift variant -/A;GA ins
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2010 2014
dbSNP: rs4639950
rs4639950 		11 119345845 missense variant T/C snv 4.0E-03 1.6E-02
CUI: C0023980
Disease: Longevity
Longevity 		0.700 1.000 1 2015 2015
dbSNP: rs797045054
rs797045054 		1.000 0.120 11 119344332 stop gained G/A snv 4.0E-06
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs883245
rs883245 		11 119346601 5 prime UTR variant G/A;C snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
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: rs1245503127
rs1245503127 		1.000 0.120 11 119344393 splice acceptor variant T/A;C snv 7.0E-06
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs150232843
rs150232843 		1.000 0.120 11 119346116 stop gained C/T snv 1.3E-05 3.5E-05
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555036138
rs1555036138 		11 119339507 missense variant G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1555037395
rs1555037395 		11 119344335 stop gained G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1565295426
rs1565295426 		1.000 0.120 11 119345432 frameshift variant C/- delins
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs374823079
rs374823079 		1.000 0.080 11 119341673 missense variant G/A snv 8.5E-05 3.5E-05
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		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: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System 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: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System 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
dbSNP: rs730882141
rs730882141 		1.000 0.120 11 119344339 stop gained G/T snv 8.0E-06
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882142
rs730882142 		1.000 0.120 11 119341663 frameshift variant CAGA/- delins
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882144
rs730882144 		1.000 0.120 11 119341739 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs749156010
rs749156010 		1.000 0.120 11 119346324 frameshift variant -/G delins 8.1E-06 7.0E-06
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs770341402
rs770341402 		1.000 0.120 11 119345803 stop gained C/A snv 1.2E-05 1.4E-05
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs906525288
rs906525288 		11 119339494 missense variant G/A;C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs111033578
rs111033578 		0.827 0.200 11 119339574 missense variant G/C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.030 1.000 3 2005 2018
dbSNP: rs111033578
rs111033578 		0.827 0.200 11 119339574 missense variant G/C snv
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 2005 2011