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rs386834184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834184(C;C)
Make rs386834184(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93786270
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834184
ebirs386834184
HLIrs386834184
Exacrs386834184
Varsomers386834184
Maprs386834184
PheGenIrs386834184
hapmaprs386834184
1000 genomesrs386834184
hgdprs386834184
ensemblrs386834184
gopubmedrs386834184
geneviewrs386834184
scholarrs386834184
googlers386834184
pharmgkbrs386834184
gwascentralrs386834184
openSNPrs386834184
23andMers386834184
23andMe allrs386834184
SNP Nexus

SNPshotrs386834184
SNPdbers386834184
MSV3drs386834184
GWAS Ctlgrs386834184
Max Magnitude0
ClinVar
Risk rs386834184(C;C)
Alt rs386834184(C;C)
Reference rs386834184(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.94798498G>C
CLNSRC ClinVar
CLNACC RCV000050179.1,


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