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rs587777139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587777139(-;-)
Make rs587777139(-;AA)
ReferenceGRCh38 38.1/142
Chromosome8
Position67158464
GeneCSPP1
is asnp
is mentioned by
dbSNPrs587777139
ebirs587777139
HLIrs587777139
Exacrs587777139
Varsomers587777139
Maprs587777139
PheGenIrs587777139
hapmaprs587777139
1000 genomesrs587777139
hgdprs587777139
ensemblrs587777139
gopubmedrs587777139
geneviewrs587777139
scholarrs587777139
googlers587777139
pharmgkbrs587777139
gwascentralrs587777139
openSNPrs587777139
23andMers587777139
23andMe allrs587777139
SNP Nexus

SNPshotrs587777139
SNPdbers587777139
MSV3drs587777139
GWAS Ctlgrs587777139
Max Magnitude0
ClinVar
Risk rs587777139(;)
Alt rs587777139(;)
Reference rs587777139(AA;AA)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68070699_68070700delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087067.5,