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rs386834202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs386834202(-;-)
Make rs386834202(-;AG)
ReferenceGRCh38 38.1/141
Chromosome8
Position93765574
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834202
ebirs386834202
HLIrs386834202
Exacrs386834202
Varsomers386834202
Maprs386834202
PheGenIrs386834202
hapmaprs386834202
1000 genomesrs386834202
hgdprs386834202
ensemblrs386834202
gopubmedrs386834202
geneviewrs386834202
scholarrs386834202
googlers386834202
pharmgkbrs386834202
gwascentralrs386834202
openSNPrs386834202
23andMers386834202
23andMe allrs386834202
SNP Nexus

SNPshotrs386834202
SNPdbers386834202
MSV3drs386834202
GWAS Ctlgrs386834202
Max Magnitude0
ClinVar
Risk rs386834202(;)
Alt rs386834202(;)
Reference rs386834202(AG;AG)
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.94777802_94777803delAG
CLNSRC ClinVar
CLNACC RCV000050196.1, RCV000194151.2,


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