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rs386834183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834183(G;T)
Make rs386834183(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93786256
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834183
ebirs386834183
HLIrs386834183
Exacrs386834183
Varsomers386834183
Maprs386834183
PheGenIrs386834183
hapmaprs386834183
1000 genomesrs386834183
hgdprs386834183
ensemblrs386834183
gopubmedrs386834183
geneviewrs386834183
scholarrs386834183
googlers386834183
pharmgkbrs386834183
gwascentralrs386834183
openSNPrs386834183
23andMers386834183
23andMe allrs386834183
SNP Nexus

SNPshotrs386834183
SNPdbers386834183
MSV3drs386834183
GWAS Ctlgrs386834183
Max Magnitude0
ClinVar
Risk rs386834183(A,T;A,T)
Alt rs386834183(A,T;A,T)
Reference rs386834183(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.94798484G>T
CLNSRC ClinVar
CLNACC RCV000050178.1,


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