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rs62635659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62635659(C;C)
Make rs62635659(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197435162
GeneCRB1
is asnp
is mentioned by
dbSNPrs62635659
ebirs62635659
HLIrs62635659
Exacrs62635659
Varsomers62635659
Maprs62635659
PheGenIrs62635659
hapmaprs62635659
1000 genomesrs62635659
hgdprs62635659
ensemblrs62635659
gopubmedrs62635659
geneviewrs62635659
scholarrs62635659
googlers62635659
pharmgkbrs62635659
gwascentralrs62635659
openSNPrs62635659
23andMers62635659
23andMe allrs62635659
SNP Nexus

SNPshotrs62635659
SNPdbers62635659
MSV3drs62635659
GWAS Ctlgrs62635659
Max Magnitude0
OMIM604210
Desc
Variant0006
Relatedalso
ClinVar
Risk rs62635659(C,G;C,G)
Alt rs62635659(C,G;C,G)
Reference rs62635659(T;T)
Significance Pathogenic
Disease not provided Leber congenital amaurosis 8
Variation info
Gene CRB1
CLNDBN not provided Leber congenital amaurosis 8
Reversed 0
HGVS NC_000001.10:g.197404292T>C; NC_000001.10:g.197404292T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000086339.1, RCV000006088.4, RCV000086340.1,