CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Leber Congenital Amaurosis ×
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: rs62636275
rs62636275 		0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.710 1.000 1 2006 2006
dbSNP: rs62645752
rs62645752 		0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs114342808
rs114342808 		0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs150412614
rs150412614 		1.000 0.040 1 197427555 stop gained C/A;G;T snv 5.6E-04; 8.0E-06; 1.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs1553261468
rs1553261468 		1.000 0.040 1 197427543 frameshift variant -/C delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs281865175
rs281865175 		0.882 0.080 1 197477775 frameshift variant CAACTCAGGG/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs62636271
rs62636271 		0.882 0.080 1 197427880 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs62645747
rs62645747 		0.882 0.040 1 197429614 missense variant T/A;C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs62645748
rs62645748 		0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs62636281
rs62636281 		0.925 0.040 1 197442236 missense variant A/C;G snv 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs760544654
rs760544654 		1.000 0.040 1 197442278 missense variant C/T snv 2.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 < 0.001 1 2014 2014