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rs386834208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834208(G;T)
Make rs386834208(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93780892
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834208
ebirs386834208
HLIrs386834208
Exacrs386834208
Varsomers386834208
Maprs386834208
PheGenIrs386834208
hapmaprs386834208
1000 genomesrs386834208
hgdprs386834208
ensemblrs386834208
gopubmedrs386834208
geneviewrs386834208
scholarrs386834208
googlers386834208
pharmgkbrs386834208
gwascentralrs386834208
openSNPrs386834208
23andMers386834208
23andMe allrs386834208
SNP Nexus

SNPshotrs386834208
SNPdbers386834208
MSV3drs386834208
GWAS Ctlgrs386834208
Max Magnitude0
ClinVar
Risk rs386834208(T;T)
Alt rs386834208(T;T)
Reference rs386834208(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.94793120G>T
CLNSRC ClinVar
CLNACC RCV000050202.1,


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