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rs863225426

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225426(C;T)
Make rs863225426(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123706829
GeneTCTN2
is asnp
is mentioned by
dbSNPrs863225426
ebirs863225426
HLIrs863225426
Exacrs863225426
Varsomers863225426
Maprs863225426
PheGenIrs863225426
hapmaprs863225426
1000 genomesrs863225426
hgdprs863225426
ensemblrs863225426
gopubmedrs863225426
geneviewrs863225426
scholarrs863225426
googlers863225426
pharmgkbrs863225426
gwascentralrs863225426
openSNPrs863225426
23andMers863225426
23andMe allrs863225426
SNP Nexus

SNPshotrs863225426
SNPdbers863225426
MSV3drs863225426
GWAS Ctlgrs863225426
Max Magnitude0
ClinVar
Risk rs863225426(T;T)
Alt rs863225426(T;T)
Reference rs863225426(C;C)
Significance Pathogenic
Disease Joubert syndrome 24
Variation info
Gene TCTN2
CLNDBN Joubert syndrome 24
Reversed 0
HGVS NC_000012.11:g.124191376C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202341.1,