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rs386834191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834191(-;-)
Make rs386834191(-;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93803663
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834191
ebirs386834191
HLIrs386834191
Exacrs386834191
Varsomers386834191
Maprs386834191
PheGenIrs386834191
hapmaprs386834191
1000 genomesrs386834191
hgdprs386834191
ensemblrs386834191
gopubmedrs386834191
geneviewrs386834191
scholarrs386834191
googlers386834191
pharmgkbrs386834191
gwascentralrs386834191
openSNPrs386834191
23andMers386834191
23andMe allrs386834191
SNP Nexus

SNPshotrs386834191
SNPdbers386834191
MSV3drs386834191
GWAS Ctlgrs386834191
Max Magnitude0
ClinVar
Risk rs386834191(;)
Alt rs386834191(;)
Reference rs386834191(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94815891delT
CLNSRC ClinVar
CLNACC RCV000050185.1,


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