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

rs587777142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777142(A;A)
Make rs587777142(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position67172556
GeneCSPP1
is asnp
is mentioned by
dbSNPrs587777142
ebirs587777142
HLIrs587777142
Exacrs587777142
Varsomers587777142
Maprs587777142
PheGenIrs587777142
hapmaprs587777142
1000 genomesrs587777142
hgdprs587777142
ensemblrs587777142
gopubmedrs587777142
geneviewrs587777142
scholarrs587777142
googlers587777142
pharmgkbrs587777142
gwascentralrs587777142
openSNPrs587777142
23andMers587777142
23andMe allrs587777142
SNP Nexus

SNPshotrs587777142
SNPdbers587777142
MSV3drs587777142
GWAS Ctlgrs587777142
Max Magnitude0
ClinVar
Risk rs587777142(A,T;A,T)
Alt rs587777142(A,T;A,T)
Reference rs587777142(G;G)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68084791G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087070.6,