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

rs137852835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852835(C;T)
Make rs137852835(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88130324
GeneCEP290
is asnp
is mentioned by
dbSNPrs137852835
ebirs137852835
HLIrs137852835
Exacrs137852835
Varsomers137852835
Maprs137852835
PheGenIrs137852835
hapmaprs137852835
1000 genomesrs137852835
hgdprs137852835
ensemblrs137852835
gopubmedrs137852835
geneviewrs137852835
scholarrs137852835
googlers137852835
pharmgkbrs137852835
gwascentralrs137852835
openSNPrs137852835
23andMers137852835
23andMe allrs137852835
SNP Nexus

SNPshotrs137852835
SNPdbers137852835
MSV3drs137852835
GWAS Ctlgrs137852835
Max Magnitude0
OMIM610142
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852835(T;T)
Alt rs137852835(T;T)
Reference rs137852835(C;C)
Significance Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88524101G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001407.2,