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rs863225425

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225425(A;A)
Make rs863225425(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123695219
GeneTCTN2
is asnp
is mentioned by
dbSNPrs863225425
ebirs863225425
HLIrs863225425
Exacrs863225425
Varsomers863225425
Maprs863225425
PheGenIrs863225425
hapmaprs863225425
1000 genomesrs863225425
hgdprs863225425
ensemblrs863225425
gopubmedrs863225425
geneviewrs863225425
scholarrs863225425
googlers863225425
pharmgkbrs863225425
gwascentralrs863225425
openSNPrs863225425
23andMers863225425
23andMe allrs863225425
SNP Nexus

SNPshotrs863225425
SNPdbers863225425
MSV3drs863225425
GWAS Ctlgrs863225425
Max Magnitude0
ClinVar
Risk rs863225425(A;A)
Alt rs863225425(A;A)
Reference rs863225425(G;G)
Significance Pathogenic
Disease Joubert syndrome 24
Variation info
Gene TCTN2
CLNDBN Joubert syndrome 24
Reversed 0
HGVS NC_000012.11:g.124179766G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202333.1,