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rs863225220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(I;I) 0 common genotype
(T;T) 0 common in clinvar
Make rs863225220(-;-)
Make rs863225220(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123704545
GeneTCTN2
is asnp
is mentioned by
dbSNPrs863225220
dbSNP (classic)rs863225220
ClinGenrs863225220
ebirs863225220
HLIrs863225220
Exacrs863225220
Gnomadrs863225220
Varsomers863225220
LitVarrs863225220
Maprs863225220
PheGenIrs863225220
Biobankrs863225220
1000 genomesrs863225220
hgdprs863225220
ensemblrs863225220
geneviewrs863225220
scholarrs863225220
googlers863225220
pharmgkbrs863225220
gwascentralrs863225220
openSNPrs863225220
23andMers863225220
SNPshotrs863225220
SNPdbers863225220
MSV3drs863225220
GWAS Ctlgrs863225220
Max Magnitude0
ClinVar
Risk rs863225220(-;-)
Alt rs863225220(-;-)
Reference Rs863225220(T;T)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene TCTN2
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000012.11:g.124189092delT
CLNSRC
CLNACC RCV000201772.1,