CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Retinal Dystrophies ×
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: rs137853137
rs137853137 		0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs145282040
rs145282040 		1.000 0.080 1 197427454 missense variant A/G;T snv 1.6E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1553263218
rs1553263218 		1 197435404 frameshift variant -/G delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2007 2007
dbSNP: rs62645748
rs62645748 		0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1553249226
rs1553249226 		1 197328605 missense variant G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs267598278
rs267598278 		1 197421741 missense variant C/T snv 1.6E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs773233587
rs773233587 		1 197421540 missense variant A/C snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853364
rs878853364 		1 197421440 frameshift variant -/CTTA ins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853366
rs878853366 		1 197344433 frameshift variant -/A delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853369
rs878853369 		1 197477817 stop gained G/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853370
rs878853370 		1 197356848 missense variant T/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853371
rs878853371 		1 197434732 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0