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rs201010803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201010803(A;A)
Make rs201010803(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123704670
GeneTCTN2
is asnp
is mentioned by
dbSNPrs201010803
dbSNP (old)rs201010803
ClinGenrs201010803
ebirs201010803
HLIrs201010803
Exacrs201010803
Varsomers201010803
Maprs201010803
PheGenIrs201010803
Biobankrs201010803
1000 genomesrs201010803
hgdprs201010803
ensemblrs201010803
gopubmedrs201010803
geneviewrs201010803
scholarrs201010803
googlers201010803
pharmgkbrs201010803
gwascentralrs201010803
openSNPrs201010803
23andMers201010803
23andMe allrs201010803
SNP Nexus

SNPshotrs201010803
SNPdbers201010803
MSV3drs201010803
GWAS Ctlgrs201010803
Max Magnitude0
ClinVar
Risk rs201010803(A;A)
Alt rs201010803(A;A)
Reference Rs201010803(T;T)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene TCTN2
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000012.11:g.124189217T>A
CLNSRC
CLNACC RCV000201600.1,