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rs796052129

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796052129(A;T)
Make rs796052129(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58457934
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs796052129
ebirs796052129
HLIrs796052129
Exacrs796052129
Varsomers796052129
Maprs796052129
PheGenIrs796052129
hapmaprs796052129
1000 genomesrs796052129
hgdprs796052129
ensemblrs796052129
gopubmedrs796052129
geneviewrs796052129
scholarrs796052129
googlers796052129
pharmgkbrs796052129
gwascentralrs796052129
openSNPrs796052129
23andMers796052129
23andMe allrs796052129
SNP Nexus

SNPshotrs796052129
SNPdbers796052129
MSV3drs796052129
GWAS Ctlgrs796052129
Max Magnitude0
ClinVar
Risk rs796052129(T;T)
Alt rs796052129(T;T)
Reference rs796052129(A;A)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58924652A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000186594.4,