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rs587777138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777138(C;T)
Make rs587777138(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position67158540
GeneCSPP1
is asnp
is mentioned by
dbSNPrs587777138
ebirs587777138
HLIrs587777138
Exacrs587777138
Varsomers587777138
Maprs587777138
PheGenIrs587777138
hapmaprs587777138
1000 genomesrs587777138
hgdprs587777138
ensemblrs587777138
gopubmedrs587777138
geneviewrs587777138
scholarrs587777138
googlers587777138
pharmgkbrs587777138
gwascentralrs587777138
openSNPrs587777138
23andMers587777138
23andMe allrs587777138
SNP Nexus

SNPshotrs587777138
SNPdbers587777138
MSV3drs587777138
GWAS Ctlgrs587777138
Max Magnitude0
ClinVar
Risk rs587777138(T;T)
Alt rs587777138(T;T)
Reference rs587777138(C;C)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68070775C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087066.3,