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rs587777144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587777144(-;-)
Make rs587777144(-;TA)
Make rs587777144(TA;TA)
ReferenceGRCh38 38.1/142
Chromosome8
Position67086062
GeneCSPP1
is asnp
is mentioned by
dbSNPrs587777144
ebirs587777144
HLIrs587777144
Exacrs587777144
Varsomers587777144
Maprs587777144
PheGenIrs587777144
hapmaprs587777144
1000 genomesrs587777144
hgdprs587777144
ensemblrs587777144
gopubmedrs587777144
geneviewrs587777144
scholarrs587777144
googlers587777144
pharmgkbrs587777144
gwascentralrs587777144
openSNPrs587777144
23andMers587777144
23andMe allrs587777144
SNP Nexus

SNPshotrs587777144
SNPdbers587777144
MSV3drs587777144
GWAS Ctlgrs587777144
Max Magnitude0
ClinVar
Risk rs587777144(;)
Alt rs587777144(;)
Reference rs587777144(AT;AT)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.67998297_67998298delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087073.5,