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rs386834205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834205(A;A)
Make rs386834205(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93772612
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834205
ebirs386834205
HLIrs386834205
Exacrs386834205
Varsomers386834205
Maprs386834205
PheGenIrs386834205
hapmaprs386834205
1000 genomesrs386834205
hgdprs386834205
ensemblrs386834205
gopubmedrs386834205
geneviewrs386834205
scholarrs386834205
googlers386834205
pharmgkbrs386834205
gwascentralrs386834205
openSNPrs386834205
23andMers386834205
23andMe allrs386834205
SNP Nexus

SNPshotrs386834205
SNPdbers386834205
MSV3drs386834205
GWAS Ctlgrs386834205
Max Magnitude0
ClinVar
Risk rs386834205(A;A)
Alt rs386834205(A;A)
Reference rs386834205(G;G)
Significance Pathogenic
Disease Meckel syndrome type 3 Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3 Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94784840G>A
CLNSRC ClinVar
CLNACC RCV000050200.1, RCV000201769.1,


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