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rs587777146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777146(C;T)
Make rs587777146(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position67095434
GeneCSPP1
is asnp
is mentioned by
dbSNPrs587777146
ebirs587777146
HLIrs587777146
Exacrs587777146
Varsomers587777146
Maprs587777146
PheGenIrs587777146
hapmaprs587777146
1000 genomesrs587777146
hgdprs587777146
ensemblrs587777146
gopubmedrs587777146
geneviewrs587777146
scholarrs587777146
googlers587777146
pharmgkbrs587777146
gwascentralrs587777146
openSNPrs587777146
23andMers587777146
23andMe allrs587777146
SNP Nexus

SNPshotrs587777146
SNPdbers587777146
MSV3drs587777146
GWAS Ctlgrs587777146
Max Magnitude0
ClinVar
Risk rs587777146(T;T)
Alt rs587777146(T;T)
Reference rs587777146(C;C)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68007669C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087075.4,