Have questions? Visit https://www.reddit.com/r/SNPedia

rs62636275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62636275(A;A)
Make rs62636275(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197435170
GeneCRB1
is asnp
is mentioned by
dbSNPrs62636275
ebirs62636275
HLIrs62636275
Exacrs62636275
Varsomers62636275
Maprs62636275
PheGenIrs62636275
hapmaprs62636275
1000 genomesrs62636275
hgdprs62636275
ensemblrs62636275
gopubmedrs62636275
geneviewrs62636275
scholarrs62636275
googlers62636275
pharmgkbrs62636275
gwascentralrs62636275
openSNPrs62636275
23andMers62636275
23andMe allrs62636275
SNP Nexus

SNPshotrs62636275
SNPdbers62636275
MSV3drs62636275
GWAS Ctlgrs62636275
Max Magnitude0
OMIM604210
Desc
Variant0011
Relatedalso


ClinVar
Risk rs62636275(A;A)
Alt rs62636275(A;A)
Reference rs62636275(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided
Variation info
Gene CRB1
CLNDBN Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided
Reversed 0
HGVS NC_000001.10:g.197404300G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006093.4, RCV000006094.4, RCV000086341.1,