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rs751962801

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs751962801(C;T)
Make rs751962801(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position110640437
GeneTCTN1
is asnp
is mentioned by
dbSNPrs751962801
ebirs751962801
HLIrs751962801
Exacrs751962801
Varsomers751962801
Maprs751962801
PheGenIrs751962801
hapmaprs751962801
1000 genomesrs751962801
hgdprs751962801
ensemblrs751962801
gopubmedrs751962801
geneviewrs751962801
scholarrs751962801
googlers751962801
pharmgkbrs751962801
gwascentralrs751962801
openSNPrs751962801
23andMers751962801
23andMe allrs751962801
SNP Nexus

SNPshotrs751962801
SNPdbers751962801
MSV3drs751962801
GWAS Ctlgrs751962801
Max Magnitude0
ClinVar
Risk rs751962801(T;T)
Alt rs751962801(T;T)
Reference rs751962801(C;C)
Significance Pathogenic
Disease Joubert syndrome 13
Variation info
Gene TCTN1
CLNDBN Joubert syndrome 13
Reversed 0
HGVS NC_000012.11:g.111078242C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207452.1,