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rs534542684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs534542684(-;-)
Make rs534542684(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58432439
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs534542684
dbSNP (old)rs534542684
ClinGenrs534542684
ebirs534542684
HLIrs534542684
Exacrs534542684
Gnomadrs534542684
Varsomers534542684
Maprs534542684
PheGenIrs534542684
Biobankrs534542684
1000 genomesrs534542684
hgdprs534542684
ensemblrs534542684
gopubmedrs534542684
geneviewrs534542684
scholarrs534542684
googlers534542684
pharmgkbrs534542684
gwascentralrs534542684
openSNPrs534542684
23andMers534542684
23andMe allrs534542684
SNP Nexus

SNPshotrs534542684
SNPdbers534542684
MSV3drs534542684
GWAS Ctlgrs534542684
Max Magnitude0
ClinVar
Risk rs534542684(-;-)
Alt rs534542684(-;-)
Reference Rs534542684(G;G)
Significance Pathogenic
Disease Joubert syndrome 23 not provided
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23 not provided
Reversed 0
HGVS NC_000014.8:g.58899157delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000186590.5, RCV000255927.2,