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rs114342808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs114342808(C;T)
Make rs114342808(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position197421404
GeneCRB1
is asnp
is mentioned by
dbSNPrs114342808
ebirs114342808
HLIrs114342808
Exacrs114342808
Varsomers114342808
Maprs114342808
PheGenIrs114342808
hapmaprs114342808
1000 genomesrs114342808
hgdprs114342808
ensemblrs114342808
gopubmedrs114342808
geneviewrs114342808
scholarrs114342808
googlers114342808
pharmgkbrs114342808
gwascentralrs114342808
openSNPrs114342808
23andMers114342808
23andMe allrs114342808
SNP Nexus

SNPshotrs114342808
SNPdbers114342808
MSV3drs114342808
GWAS Ctlgrs114342808
Max Magnitude0
ClinVar
Risk rs114342808(T;T)
Alt rs114342808(T;T)
Reference rs114342808(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 8 Retinitis pigmentosa 12
Variation info
Gene CRB1
CLNDBN Leber congenital amaurosis 8 Retinitis pigmentosa 12
Reversed 0
HGVS NC_000001.10:g.197390534C>T
CLNSRC ClinVar
CLNACC RCV000132698.3, RCV000179572.1,