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rs386834181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834181(-;-)
Make rs386834181(-;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93781745
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834181
ebirs386834181
HLIrs386834181
Exacrs386834181
Varsomers386834181
Maprs386834181
PheGenIrs386834181
hapmaprs386834181
1000 genomesrs386834181
hgdprs386834181
ensemblrs386834181
gopubmedrs386834181
geneviewrs386834181
scholarrs386834181
googlers386834181
pharmgkbrs386834181
gwascentralrs386834181
openSNPrs386834181
23andMers386834181
23andMe allrs386834181
SNP Nexus

SNPshotrs386834181
SNPdbers386834181
MSV3drs386834181
GWAS Ctlgrs386834181
Max Magnitude0
ClinVar
Risk rs386834181(;)
Alt rs386834181(;)
Reference rs386834181(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94793973delG
CLNSRC ClinVar
CLNACC RCV000050176.1,


[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.