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rs386834180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834180(C;C)
Make rs386834180(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93781725
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834180
ebirs386834180
HLIrs386834180
Exacrs386834180
Varsomers386834180
Maprs386834180
PheGenIrs386834180
hapmaprs386834180
1000 genomesrs386834180
hgdprs386834180
ensemblrs386834180
gopubmedrs386834180
geneviewrs386834180
scholarrs386834180
googlers386834180
pharmgkbrs386834180
gwascentralrs386834180
openSNPrs386834180
23andMers386834180
23andMe allrs386834180
SNP Nexus

SNPshotrs386834180
SNPdbers386834180
MSV3drs386834180
GWAS Ctlgrs386834180
Max Magnitude0
ClinVar
Risk rs386834180(C;C)
Alt rs386834180(C;C)
Reference rs386834180(T;T)
Significance Pathogenic
Disease Meckel syndrome type 3 Meckel-Gruber syndrome Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3 Meckel-Gruber syndrome Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94793953T>C
CLNSRC ClinVar
CLNACC RCV000050175.1, RCV000114240.1, RCV000201777.1,


[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.


[PMID 20232449OA-icon.png] Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.