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rs770566897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs770566897(-;-)
Make rs770566897(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58444072
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs770566897
ClinGenrs770566897
ebirs770566897
HLIrs770566897
Exacrs770566897
Varsomers770566897
Maprs770566897
PheGenIrs770566897
hapmaprs770566897
1000 genomesrs770566897
hgdprs770566897
ensemblrs770566897
gopubmedrs770566897
geneviewrs770566897
scholarrs770566897
googlers770566897
pharmgkbrs770566897
gwascentralrs770566897
openSNPrs770566897
23andMers770566897
23andMe allrs770566897
SNP Nexus

SNPshotrs770566897
SNPdbers770566897
MSV3drs770566897
GWAS Ctlgrs770566897
Max Magnitude0
ClinVar
Risk rs770566897(-;-)
Alt rs770566897(-;-)
Reference Rs770566897(AA;AA)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58910790_58910791delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000186593.4,