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rs386834193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834193(A;A)
Make rs386834193(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93804796
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834193
ebirs386834193
HLIrs386834193
Exacrs386834193
Varsomers386834193
Maprs386834193
PheGenIrs386834193
hapmaprs386834193
1000 genomesrs386834193
hgdprs386834193
ensemblrs386834193
gopubmedrs386834193
geneviewrs386834193
scholarrs386834193
googlers386834193
pharmgkbrs386834193
gwascentralrs386834193
openSNPrs386834193
23andMers386834193
23andMe allrs386834193
SNP Nexus

SNPshotrs386834193
SNPdbers386834193
MSV3drs386834193
GWAS Ctlgrs386834193
Max Magnitude0
ClinVar
Risk rs386834193(A,T;A,T)
Alt rs386834193(A,T;A,T)
Reference rs386834193(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.94817024G>A
CLNSRC ClinVar
CLNACC RCV000050187.1,


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