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rs2808415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs2808415(A;C)
Make rs2808415(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position123363039
GeneCRB2
is asnp
is mentioned by
dbSNPrs2808415
ebirs2808415
HLIrs2808415
Exacrs2808415
Varsomers2808415
Maprs2808415
PheGenIrs2808415
hapmaprs2808415
1000 genomesrs2808415
hgdprs2808415
ensemblrs2808415
gopubmedrs2808415
geneviewrs2808415
scholarrs2808415
googlers2808415
pharmgkbrs2808415
gwascentralrs2808415
openSNPrs2808415
23andMers2808415
23andMe allrs2808415
SNP Nexus

SNPshotrs2808415
SNPdbers2808415
MSV3drs2808415
GWAS Ctlgrs2808415
GMAF0.002755
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene CRB2
allele A
frequency
sift TOLERATED
HuRef 1103652181457
Disease Association Defects in CRB2 may be a cause of Leber congenital amaurosis (LCA) (MIM:204000). It must be noted that sequence variations in CRB2 seem not to be a common cause of LCA. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.



GET Evidence
CRB2-T90N
aa_change Thr90Asn
aa_change_short T90N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.997117
summary