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rs786204788

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204788(A;A)
Make rs786204788(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123706833
GeneTCTN2
is asnp
is mentioned by
dbSNPrs786204788
ebirs786204788
HLIrs786204788
Exacrs786204788
Varsomers786204788
Maprs786204788
PheGenIrs786204788
hapmaprs786204788
1000 genomesrs786204788
hgdprs786204788
ensemblrs786204788
gopubmedrs786204788
geneviewrs786204788
scholarrs786204788
googlers786204788
pharmgkbrs786204788
gwascentralrs786204788
openSNPrs786204788
23andMers786204788
23andMe allrs786204788
SNP Nexus

SNPshotrs786204788
SNPdbers786204788
MSV3drs786204788
GWAS Ctlgrs786204788
Max Magnitude0
ClinVar
Risk rs786204788(A;A)
Alt rs786204788(A;A)
Reference rs786204788(T;T)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene TCTN2
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000012.11:g.124191380T>A
CLNSRC
CLNACC RCV000169679.1,