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rs386834201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834201(A;A)
Make rs386834201(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93758557
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834201
ebirs386834201
HLIrs386834201
Exacrs386834201
Varsomers386834201
Maprs386834201
PheGenIrs386834201
hapmaprs386834201
1000 genomesrs386834201
hgdprs386834201
ensemblrs386834201
gopubmedrs386834201
geneviewrs386834201
scholarrs386834201
googlers386834201
pharmgkbrs386834201
gwascentralrs386834201
openSNPrs386834201
23andMers386834201
23andMe allrs386834201
SNP Nexus

SNPshotrs386834201
SNPdbers386834201
MSV3drs386834201
GWAS Ctlgrs386834201
Max Magnitude0
ClinVar
Risk rs386834201(A;A)
Alt rs386834201(A;A)
Reference rs386834201(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94770785T>A
CLNSRC ClinVar
CLNACC RCV000050195.1,


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