CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Macular dystrophy ×
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: rs398124615
rs398124615 		0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2006 2018
dbSNP: rs62636273
rs62636273 		0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2004 2018
dbSNP: rs1201356843
rs1201356843 		1.000 0.040 1 197477799 missense variant C/A;T snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1553260321
rs1553260321 		1.000 0.040 1 197421257 frameshift variant G/- delins
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs62635654
rs62635654 		0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs764256655
rs764256655 		0.925 0.080 1 197328935 missense variant G/T snv 1.2E-05 5.6E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2018 2018