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rs386834194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834194(A;G)
Make rs386834194(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93808928
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834194
ebirs386834194
HLIrs386834194
Exacrs386834194
Varsomers386834194
Maprs386834194
PheGenIrs386834194
hapmaprs386834194
1000 genomesrs386834194
hgdprs386834194
ensemblrs386834194
gopubmedrs386834194
geneviewrs386834194
scholarrs386834194
googlers386834194
pharmgkbrs386834194
gwascentralrs386834194
openSNPrs386834194
23andMers386834194
23andMe allrs386834194
SNP Nexus

SNPshotrs386834194
SNPdbers386834194
MSV3drs386834194
GWAS Ctlgrs386834194
Max Magnitude0
ClinVar
Risk rs386834194(G;G)
Alt rs386834194(G;G)
Reference rs386834194(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.94821156A>G
CLNSRC ClinVar
CLNACC RCV000050188.1,


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