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rs386834207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834207(A;G)
Make rs386834207(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93780872
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834207
ebirs386834207
HLIrs386834207
Exacrs386834207
Varsomers386834207
Maprs386834207
PheGenIrs386834207
hapmaprs386834207
1000 genomesrs386834207
hgdprs386834207
ensemblrs386834207
gopubmedrs386834207
geneviewrs386834207
scholarrs386834207
googlers386834207
pharmgkbrs386834207
gwascentralrs386834207
openSNPrs386834207
23andMers386834207
23andMe allrs386834207
SNP Nexus

SNPshotrs386834207
SNPdbers386834207
MSV3drs386834207
GWAS Ctlgrs386834207
Max Magnitude0
ClinVar
Risk rs386834207(G;G)
Alt rs386834207(G;G)
Reference rs386834207(A;A)
Significance Other
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94793100A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001432.6,


[PMID 16415887] The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.


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