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rs386834186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs386834186(-;-)
Make rs386834186(-;AT)
ReferenceGRCh38 38.1/141
Chromosome8
Position93791282
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834186
ebirs386834186
HLIrs386834186
Exacrs386834186
Varsomers386834186
Maprs386834186
PheGenIrs386834186
hapmaprs386834186
1000 genomesrs386834186
hgdprs386834186
ensemblrs386834186
gopubmedrs386834186
geneviewrs386834186
scholarrs386834186
googlers386834186
pharmgkbrs386834186
gwascentralrs386834186
openSNPrs386834186
23andMers386834186
23andMe allrs386834186
SNP Nexus

SNPshotrs386834186
SNPdbers386834186
MSV3drs386834186
GWAS Ctlgrs386834186
Max Magnitude0
ClinVar
Risk rs386834186(;)
Alt rs386834186(;)
Reference rs386834186(AT;AT)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94803510_94803511delAT
CLNSRC ClinVar
CLNACC RCV000050181.1,


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