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rs386834192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834192(-;-)
Make rs386834192(-;T)
Make rs386834192(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93803686
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834192
ebirs386834192
HLIrs386834192
Exacrs386834192
Varsomers386834192
Maprs386834192
PheGenIrs386834192
hapmaprs386834192
1000 genomesrs386834192
hgdprs386834192
ensemblrs386834192
gopubmedrs386834192
geneviewrs386834192
scholarrs386834192
googlers386834192
pharmgkbrs386834192
gwascentralrs386834192
openSNPrs386834192
23andMers386834192
23andMe allrs386834192
SNP Nexus

SNPshotrs386834192
SNPdbers386834192
MSV3drs386834192
GWAS Ctlgrs386834192
Max Magnitude0
ClinVar
Risk rs386834192(T;T)
Alt rs386834192(T;T)
Reference rs386834192(;)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3 not provided Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3 not provided Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94815914dupT
CLNSRC ClinVar
CLNACC RCV000050186.1, RCV000176336.1, RCV000201707.1,


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