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rs797046039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797046039(-;-)
Make rs797046039(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position110636502
GeneTCTN1
is asnp
is mentioned by
dbSNPrs797046039
dbSNP (classic)rs797046039
ClinGenrs797046039
ebirs797046039
HLIrs797046039
Exacrs797046039
Gnomadrs797046039
Varsomers797046039
LitVarrs797046039
Maprs797046039
PheGenIrs797046039
Biobankrs797046039
1000 genomesrs797046039
hgdprs797046039
ensemblrs797046039
geneviewrs797046039
scholarrs797046039
googlers797046039
pharmgkbrs797046039
gwascentralrs797046039
openSNPrs797046039
23andMers797046039
SNPshotrs797046039
SNPdbers797046039
MSV3drs797046039
GWAS Ctlgrs797046039
Max Magnitude0
ClinVar
Risk rs797046039(-;-)
Alt rs797046039(-;-)
Reference Rs797046039(G;G)
Significance Pathogenic
Disease Joubert syndrome 13
Variation info
Gene TCTN1
CLNDBN Joubert syndrome 13
Reversed 0
HGVS NC_000012.11:g.111074307delG
CLNSRC
CLNACC RCV000194752.1,