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rs386834206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834206(C;T)
Make rs386834206(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93780612
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834206
ebirs386834206
HLIrs386834206
Exacrs386834206
Varsomers386834206
Maprs386834206
PheGenIrs386834206
hapmaprs386834206
1000 genomesrs386834206
hgdprs386834206
ensemblrs386834206
gopubmedrs386834206
geneviewrs386834206
scholarrs386834206
googlers386834206
pharmgkbrs386834206
gwascentralrs386834206
openSNPrs386834206
23andMers386834206
23andMe allrs386834206
SNP Nexus

SNPshotrs386834206
SNPdbers386834206
MSV3drs386834206
GWAS Ctlgrs386834206
Max Magnitude0
ClinVar
Risk rs386834206(T;T)
Alt rs386834206(T;T)
Reference rs386834206(C;C)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94792840C>T
CLNSRC ClinVar
CLNACC RCV000050201.1,


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