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rs386834199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834199(C;C)
Make rs386834199(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93815437
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834199
ebirs386834199
HLIrs386834199
Exacrs386834199
Varsomers386834199
Maprs386834199
PheGenIrs386834199
hapmaprs386834199
1000 genomesrs386834199
hgdprs386834199
ensemblrs386834199
gopubmedrs386834199
geneviewrs386834199
scholarrs386834199
googlers386834199
pharmgkbrs386834199
gwascentralrs386834199
openSNPrs386834199
23andMers386834199
23andMe allrs386834199
SNP Nexus

SNPshotrs386834199
SNPdbers386834199
MSV3drs386834199
GWAS Ctlgrs386834199
Max Magnitude0
ClinVar
Risk rs386834199(C;C)
Alt rs386834199(C;C)
Reference rs386834199(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94827665T>C
CLNSRC ClinVar
CLNACC RCV000050193.1,


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


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