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rs796052128

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052128(C;T)
Make rs796052128(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58450617
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs796052128
ebirs796052128
HLIrs796052128
Exacrs796052128
Varsomers796052128
Maprs796052128
PheGenIrs796052128
hapmaprs796052128
1000 genomesrs796052128
hgdprs796052128
ensemblrs796052128
gopubmedrs796052128
geneviewrs796052128
scholarrs796052128
googlers796052128
pharmgkbrs796052128
gwascentralrs796052128
openSNPrs796052128
23andMers796052128
23andMe allrs796052128
SNP Nexus

SNPshotrs796052128
SNPdbers796052128
MSV3drs796052128
GWAS Ctlgrs796052128
Max Magnitude0
ClinVar
Risk rs796052128(T;T)
Alt rs796052128(T;T)
Reference rs796052128(C;C)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58917335C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000186592.4,