Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs386834198(-;TA)
Make rs386834198(TA;TA)
ReferenceGRCh38 38.1/141
Chromosome8
Position93809812
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834198
ClinGenrs386834198
ebirs386834198
HLIrs386834198
Exacrs386834198
Varsomers386834198
Maprs386834198
PheGenIrs386834198
hapmaprs386834198
1000 genomesrs386834198
hgdprs386834198
ensemblrs386834198
gopubmedrs386834198
geneviewrs386834198
scholarrs386834198
googlers386834198
pharmgkbrs386834198
gwascentralrs386834198
openSNPrs386834198
23andMers386834198
23andMe allrs386834198
SNP Nexus

SNPshotrs386834198
SNPdbers386834198
MSV3drs386834198
GWAS Ctlgrs386834198
Max Magnitude0
ClinVar
Risk rs386834198(AT;AT)
Alt rs386834198(AT;AT)
Reference Rs386834198(-;-)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94822040_94822041insTA
CLNSRC ClinVar
CLNACC RCV000050192.1,


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