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rs386834203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834203(-;-)
Make rs386834203(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position93765574
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834203
ebirs386834203
HLIrs386834203
Exacrs386834203
Varsomers386834203
Maprs386834203
PheGenIrs386834203
hapmaprs386834203
1000 genomesrs386834203
hgdprs386834203
ensemblrs386834203
gopubmedrs386834203
geneviewrs386834203
scholarrs386834203
googlers386834203
pharmgkbrs386834203
gwascentralrs386834203
openSNPrs386834203
23andMers386834203
23andMe allrs386834203
SNP Nexus

SNPshotrs386834203
SNPdbers386834203
MSV3drs386834203
GWAS Ctlgrs386834203
Max Magnitude0
ClinVar
Risk rs386834203(;)
Alt rs386834203(;)
Reference rs386834203(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.94777802delA
CLNSRC ClinVar
CLNACC RCV000050197.1,


[PMID 17377820] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.


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