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rs757350052

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs757350052(C;C)
Make rs757350052(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58456701
GeneKIAA0586
is asnp
is mentioned by
dbSNPrs757350052
ebirs757350052
HLIrs757350052
Exacrs757350052
Varsomers757350052
Maprs757350052
PheGenIrs757350052
hapmaprs757350052
1000 genomesrs757350052
hgdprs757350052
ensemblrs757350052
gopubmedrs757350052
geneviewrs757350052
scholarrs757350052
googlers757350052
pharmgkbrs757350052
gwascentralrs757350052
openSNPrs757350052
23andMers757350052
23andMe allrs757350052
SNP Nexus

SNPshotrs757350052
SNPdbers757350052
MSV3drs757350052
GWAS Ctlgrs757350052
Max Magnitude0
ClinVar
Risk rs757350052(C;C)
Alt rs757350052(C;C)
Reference rs757350052(G;G)
Significance Pathogenic
Disease Joubert syndrome 23
Variation info
Gene KIAA0586
CLNDBN Joubert syndrome 23
Reversed 0
HGVS NC_000014.8:g.58923419G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000186591.4,