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rs386834189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834189(C;C)
Make rs386834189(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93797372
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834189
ebirs386834189
HLIrs386834189
Exacrs386834189
Varsomers386834189
Maprs386834189
PheGenIrs386834189
hapmaprs386834189
1000 genomesrs386834189
hgdprs386834189
ensemblrs386834189
gopubmedrs386834189
geneviewrs386834189
scholarrs386834189
googlers386834189
pharmgkbrs386834189
gwascentralrs386834189
openSNPrs386834189
23andMers386834189
23andMe allrs386834189
SNP Nexus

SNPshotrs386834189
SNPdbers386834189
MSV3drs386834189
GWAS Ctlgrs386834189
Max Magnitude0
ClinVar
Risk rs386834189(C;C)
Alt rs386834189(C;C)
Reference rs386834189(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94809600T>C
CLNSRC ClinVar
CLNACC RCV000050183.1,


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