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rs863225221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225221(G;T)
Make rs863225221(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123695276
GeneTCTN2
is asnp
is mentioned by
dbSNPrs863225221
dbSNP (classic)rs863225221
ClinGenrs863225221
ebirs863225221
HLIrs863225221
Exacrs863225221
Gnomadrs863225221
Varsomers863225221
LitVarrs863225221
Maprs863225221
PheGenIrs863225221
Biobankrs863225221
1000 genomesrs863225221
hgdprs863225221
ensemblrs863225221
geneviewrs863225221
scholarrs863225221
googlers863225221
pharmgkbrs863225221
gwascentralrs863225221
openSNPrs863225221
23andMers863225221
SNPshotrs863225221
SNPdbers863225221
MSV3drs863225221
GWAS Ctlgrs863225221
Max Magnitude0
ClinVar
Risk rs863225221(T;T)
Alt rs863225221(T;T)
Reference Rs863225221(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene TCTN2
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000012.11:g.124179823G>T
CLNSRC
CLNACC RCV000201712.1,