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rs386834190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834190(-;-)
Make rs386834190(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position93755776
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834190
ebirs386834190
HLIrs386834190
Exacrs386834190
Varsomers386834190
Maprs386834190
PheGenIrs386834190
hapmaprs386834190
1000 genomesrs386834190
hgdprs386834190
ensemblrs386834190
gopubmedrs386834190
geneviewrs386834190
scholarrs386834190
googlers386834190
pharmgkbrs386834190
gwascentralrs386834190
openSNPrs386834190
23andMers386834190
23andMe allrs386834190
SNP Nexus

SNPshotrs386834190
SNPdbers386834190
MSV3drs386834190
GWAS Ctlgrs386834190
Max Magnitude0
ClinVar
Risk rs386834190(;)
Alt rs386834190(;)
Reference rs386834190(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.94768004delA
CLNSRC ClinVar
CLNACC RCV000050184.1,


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