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rs2488601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2488601(C;T)
Make rs2488601(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position123373436
GeneCRB2
is asnp
is mentioned by
dbSNPrs2488601
ebirs2488601
HLIrs2488601
Exacrs2488601
Varsomers2488601
Maprs2488601
PheGenIrs2488601
hapmaprs2488601
1000 genomesrs2488601
hgdprs2488601
ensemblrs2488601
gopubmedrs2488601
geneviewrs2488601
scholarrs2488601
googlers2488601
pharmgkbrs2488601
gwascentralrs2488601
openSNPrs2488601
23andMers2488601
23andMe allrs2488601
SNP Nexus

SNPshotrs2488601
SNPdbers2488601
MSV3drs2488601
GWAS Ctlgrs2488601
GMAF0.02204
Max Magnitude0
Venter snp
Source plos
Gene CRB2
allele G
frequency
sift TOLERATED
HuRef 1103652181487
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-T969A
aa_change Thr969Ala
aa_change_short T969A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.971545
summary