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rs386834188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834188(A;G)
Make rs386834188(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93755075
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834188
ebirs386834188
HLIrs386834188
Exacrs386834188
Varsomers386834188
Maprs386834188
PheGenIrs386834188
hapmaprs386834188
1000 genomesrs386834188
hgdprs386834188
ensemblrs386834188
gopubmedrs386834188
geneviewrs386834188
scholarrs386834188
googlers386834188
pharmgkbrs386834188
gwascentralrs386834188
openSNPrs386834188
23andMers386834188
23andMe allrs386834188
SNP Nexus

SNPshotrs386834188
SNPdbers386834188
MSV3drs386834188
GWAS Ctlgrs386834188
Max Magnitude0
ClinVar
Risk rs386834188(G;G)
Alt rs386834188(G;G)
Reference rs386834188(A;A)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94767303A>G
CLNSRC ClinVar
CLNACC RCV000050182.1,


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