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rs864309712

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309712(C;T)
Make rs864309712(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position27749634
GeneKIAA0556, LOC105371157
is asnp
is mentioned by
dbSNPrs864309712
ebirs864309712
HLIrs864309712
Exacrs864309712
Varsomers864309712
Maprs864309712
PheGenIrs864309712
hapmaprs864309712
1000 genomesrs864309712
hgdprs864309712
ensemblrs864309712
gopubmedrs864309712
geneviewrs864309712
scholarrs864309712
googlers864309712
pharmgkbrs864309712
gwascentralrs864309712
openSNPrs864309712
23andMers864309712
23andMe allrs864309712
SNP Nexus

SNPshotrs864309712
SNPdbers864309712
MSV3drs864309712
GWAS Ctlgrs864309712
Max Magnitude0
ClinVar
Risk rs864309712(T;T)
Alt rs864309712(T;T)
Reference rs864309712(C;C)
Significance Pathogenic
Disease Joubert syndrome Joubert syndrome 26
Variation info
Gene KIAA0556
CLNDBN Joubert syndrome Joubert syndrome 26
Reversed 0
HGVS NC_000016.9:g.27760955C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203288.1, RCV000207324.1,