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rs386834182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834182(A;A)
Make rs386834182(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93786253
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834182
ebirs386834182
HLIrs386834182
Exacrs386834182
Varsomers386834182
Maprs386834182
PheGenIrs386834182
hapmaprs386834182
1000 genomesrs386834182
hgdprs386834182
ensemblrs386834182
gopubmedrs386834182
geneviewrs386834182
scholarrs386834182
googlers386834182
pharmgkbrs386834182
gwascentralrs386834182
openSNPrs386834182
23andMers386834182
23andMe allrs386834182
SNP Nexus

SNPshotrs386834182
SNPdbers386834182
MSV3drs386834182
GWAS Ctlgrs386834182
Max Magnitude0
ClinVar
Risk rs386834182(A;A)
Alt rs386834182(A;A)
Reference rs386834182(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94798481G>A
CLNSRC ClinVar
CLNACC RCV000050177.1,


[PMID 17377820] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.


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


[PMID 19466712OA-icon.png] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?


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