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

rs863225223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225223(-;-)
Make rs863225223(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123671311
GeneTCTN2
is asnp
is mentioned by
dbSNPrs863225223
dbSNP (classic)rs863225223
ClinGenrs863225223
ebirs863225223
HLIrs863225223
Exacrs863225223
Gnomadrs863225223
Varsomers863225223
LitVarrs863225223
Maprs863225223
PheGenIrs863225223
Biobankrs863225223
1000 genomesrs863225223
hgdprs863225223
ensemblrs863225223
geneviewrs863225223
scholarrs863225223
googlers863225223
pharmgkbrs863225223
gwascentralrs863225223
openSNPrs863225223
23andMers863225223
SNPshotrs863225223
SNPdbers863225223
MSV3drs863225223
GWAS Ctlgrs863225223
Max Magnitude0
ClinVar
Risk rs863225223(-;-)
Alt rs863225223(-;-)
Reference Rs863225223(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene TCTN2
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000012.11:g.124155858delG
CLNSRC
CLNACC RCV000201599.1,