Have questions? Visit https://www.reddit.com/r/SNPedia

rs537456518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs537456518(C;T)
Make rs537456518(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position67164468
GeneCSPP1
is asnp
is mentioned by
dbSNPrs537456518
ebirs537456518
HLIrs537456518
Exacrs537456518
Varsomers537456518
Maprs537456518
PheGenIrs537456518
hapmaprs537456518
1000 genomesrs537456518
hgdprs537456518
ensemblrs537456518
gopubmedrs537456518
geneviewrs537456518
scholarrs537456518
googlers537456518
pharmgkbrs537456518
gwascentralrs537456518
openSNPrs537456518
23andMers537456518
23andMe allrs537456518
SNP Nexus

SNPshotrs537456518
SNPdbers537456518
MSV3drs537456518
GWAS Ctlgrs537456518
Max Magnitude0
ClinVar
Risk rs537456518(G,T;G,T)
Alt rs537456518(G,T;G,T)
Reference rs537456518(C;C)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68076703C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087076.4,