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rs137853136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853136(G;T)
Make rs137853136(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197442284
GeneCRB1
is asnp
is mentioned by
dbSNPrs137853136
ebirs137853136
HLIrs137853136
Exacrs137853136
Varsomers137853136
Maprs137853136
PheGenIrs137853136
hapmaprs137853136
1000 genomesrs137853136
hgdprs137853136
ensemblrs137853136
gopubmedrs137853136
geneviewrs137853136
scholarrs137853136
googlers137853136
pharmgkbrs137853136
gwascentralrs137853136
openSNPrs137853136
23andMers137853136
23andMe allrs137853136
SNP Nexus

SNPshotrs137853136
SNPdbers137853136
MSV3drs137853136
GWAS Ctlgrs137853136
Max Magnitude0
OMIM604210
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853136(A,T;A,T)
Alt rs137853136(A,T;A,T)
Reference rs137853136(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 8
Variation info
Gene CRB1
CLNDBN Leber congenital amaurosis 8
Reversed 0
HGVS NC_000001.10:g.197411414G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006089.4,