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rs386834195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834195(G;T)
Make rs386834195(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93808942
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834195
ebirs386834195
HLIrs386834195
Exacrs386834195
Varsomers386834195
Maprs386834195
PheGenIrs386834195
hapmaprs386834195
1000 genomesrs386834195
hgdprs386834195
ensemblrs386834195
gopubmedrs386834195
geneviewrs386834195
scholarrs386834195
googlers386834195
pharmgkbrs386834195
gwascentralrs386834195
openSNPrs386834195
23andMers386834195
23andMe allrs386834195
SNP Nexus

SNPshotrs386834195
SNPdbers386834195
MSV3drs386834195
GWAS Ctlgrs386834195
Max Magnitude0
ClinVar
Risk rs386834195(T;T)
Alt rs386834195(T;T)
Reference rs386834195(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.94821170G>T
CLNSRC ClinVar
CLNACC RCV000050189.1,


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