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rs730882221

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882221(A;G)
Make rs730882221(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110626360
GeneTCTN1
is asnp
is mentioned by
dbSNPrs730882221
ebirs730882221
HLIrs730882221
Exacrs730882221
Varsomers730882221
Maprs730882221
PheGenIrs730882221
hapmaprs730882221
1000 genomesrs730882221
hgdprs730882221
ensemblrs730882221
gopubmedrs730882221
geneviewrs730882221
scholarrs730882221
googlers730882221
pharmgkbrs730882221
gwascentralrs730882221
openSNPrs730882221
23andMers730882221
23andMe allrs730882221
SNP Nexus

SNPshotrs730882221
SNPdbers730882221
MSV3drs730882221
GWAS Ctlgrs730882221
Max Magnitude0
ClinVar
Risk rs730882221(G;G)
Alt rs730882221(G;G)
Reference rs730882221(A;A)
Significance Pathogenic
Disease Global developmental delay Typical Joubert syndrome MRI findings Joubert syndrome 13
Variation info
Gene TCTN1
CLNDBN Global developmental delay Typical Joubert syndrome MRI findings Joubert syndrome 13
Reversed 0
HGVS NC_000012.11:g.111064165A>G
CLNSRC
CLNACC RCV000162131.1, RCV000201626.1,