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rs587777143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587777143(-;-)
Make rs587777143(-;AT)
ReferenceGRCh38 38.1/142
Chromosome8
Position67161814
GeneCSPP1
is asnp
is mentioned by
dbSNPrs587777143
ebirs587777143
HLIrs587777143
Exacrs587777143
Varsomers587777143
Maprs587777143
PheGenIrs587777143
hapmaprs587777143
1000 genomesrs587777143
hgdprs587777143
ensemblrs587777143
gopubmedrs587777143
geneviewrs587777143
scholarrs587777143
googlers587777143
pharmgkbrs587777143
gwascentralrs587777143
openSNPrs587777143
23andMers587777143
23andMe allrs587777143
SNP Nexus

SNPshotrs587777143
SNPdbers587777143
MSV3drs587777143
GWAS Ctlgrs587777143
Max Magnitude0
ClinVar
Risk rs587777143(;)
Alt rs587777143(;)
Reference rs587777143(AT;AT)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68074049_68074050delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000087071.5,