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rs869312856

From SNPedia

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Geno Mag Summary
(AGCT;AGCT) 0 common in clinvar
Make rs869312856(AGCT;GA)
Make rs869312856(GA;GA)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position58456719
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs869312856
ebirs869312856
HLIrs869312856
Exacrs869312856
Varsomers869312856
Maprs869312856
PheGenIrs869312856
hapmaprs869312856
1000 genomesrs869312856
hgdprs869312856
ensemblrs869312856
gopubmedrs869312856
geneviewrs869312856
scholarrs869312856
googlers869312856
pharmgkbrs869312856
gwascentralrs869312856
openSNPrs869312856
23andMers869312856
23andMe allrs869312856
SNP Nexus

SNPshotrs869312856
SNPdbers869312856
MSV3drs869312856
GWAS Ctlgrs869312856
Max Magnitude0
ClinVar
Risk rs869312856(GA;GA)
Alt rs869312856(GA;GA)
Reference rs869312856(AGCT;AGCT)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58923437_58923440delAGCTinsGA
CLNSRC
CLNACC RCV000201567.1,