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

rs863225222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs863225222(-;G)
Make rs863225222(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123671316
GeneTCTN2
is asnp
is mentioned by
dbSNPrs863225222
dbSNP (classic)rs863225222
ClinGenrs863225222
ebirs863225222
HLIrs863225222
Exacrs863225222
Gnomadrs863225222
Varsomers863225222
LitVarrs863225222
Maprs863225222
PheGenIrs863225222
Biobankrs863225222
1000 genomesrs863225222
hgdprs863225222
ensemblrs863225222
geneviewrs863225222
scholarrs863225222
googlers863225222
pharmgkbrs863225222
gwascentralrs863225222
openSNPrs863225222
23andMers863225222
SNPshotrs863225222
SNPdbers863225222
MSV3drs863225222
GWAS Ctlgrs863225222
Max Magnitude0
ClinVar
Risk rs863225222(G;G)
Alt rs863225222(G;G)
Reference Rs863225222(-;-)
Significance Pathogenic
Disease Joubert syndrome Joubert syndrome 24
Variation info
Gene TCTN2
CLNDBN Joubert syndrome Joubert syndrome 24
Reversed 0
HGVS NC_000012.11:g.124155863dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000201539.1, RCV000202326.1,