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rs386834197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834197(-;-)
Make rs386834197(-;A)
Make rs386834197(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position93809061
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834197
ebirs386834197
HLIrs386834197
Exacrs386834197
Varsomers386834197
Maprs386834197
PheGenIrs386834197
hapmaprs386834197
1000 genomesrs386834197
hgdprs386834197
ensemblrs386834197
gopubmedrs386834197
geneviewrs386834197
scholarrs386834197
googlers386834197
pharmgkbrs386834197
gwascentralrs386834197
openSNPrs386834197
23andMers386834197
23andMe allrs386834197
SNP Nexus

SNPshotrs386834197
SNPdbers386834197
MSV3drs386834197
GWAS Ctlgrs386834197
Max Magnitude0
ClinVar
Risk rs386834197(A;A)
Alt rs386834197(A;A)
Reference rs386834197(;)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94821289dupA
CLNSRC ClinVar
CLNACC RCV000050191.1,


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