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rs761382780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs761382780(-;-)
Make rs761382780(-;AGAA)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position67159047
GeneCSPP1
is asnp
is mentioned by
dbSNPrs761382780
dbSNP (old)rs761382780
ClinGenrs761382780
ebirs761382780
HLIrs761382780
Exacrs761382780
Gnomadrs761382780
Varsomers761382780
Maprs761382780
PheGenIrs761382780
Biobankrs761382780
1000 genomesrs761382780
hgdprs761382780
ensemblrs761382780
gopubmedrs761382780
geneviewrs761382780
scholarrs761382780
googlers761382780
pharmgkbrs761382780
gwascentralrs761382780
openSNPrs761382780
23andMers761382780
23andMe allrs761382780
SNP Nexus

SNPshotrs761382780
SNPdbers761382780
MSV3drs761382780
GWAS Ctlgrs761382780
Max Magnitude0
ClinVar
Risk rs761382780(-;-)
Alt rs761382780(-;-)
Reference Rs761382780(AGAA;AGAA)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68071282_68071285delAGAA
CLNSRC
CLNACC RCV000201671.1,