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rs386834196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834196(A;T)
Make rs386834196(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93809057
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834196
ebirs386834196
HLIrs386834196
Exacrs386834196
Varsomers386834196
Maprs386834196
PheGenIrs386834196
hapmaprs386834196
1000 genomesrs386834196
hgdprs386834196
ensemblrs386834196
gopubmedrs386834196
geneviewrs386834196
scholarrs386834196
googlers386834196
pharmgkbrs386834196
gwascentralrs386834196
openSNPrs386834196
23andMers386834196
23andMe allrs386834196
SNP Nexus

SNPshotrs386834196
SNPdbers386834196
MSV3drs386834196
GWAS Ctlgrs386834196
Max Magnitude0
ClinVar
Risk rs386834196(T;T)
Alt rs386834196(T;T)
Reference rs386834196(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.94821285A>T
CLNSRC ClinVar
CLNACC RCV000050190.1,


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