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rs199821258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199821258(G;G)
Make rs199821258(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93765648
GeneTMEM67
is asnp
is mentioned by
dbSNPrs199821258
ebirs199821258
HLIrs199821258
Exacrs199821258
Varsomers199821258
Maprs199821258
PheGenIrs199821258
hapmaprs199821258
1000 genomesrs199821258
hgdprs199821258
ensemblrs199821258
gopubmedrs199821258
geneviewrs199821258
scholarrs199821258
googlers199821258
pharmgkbrs199821258
gwascentralrs199821258
openSNPrs199821258
23andMers199821258
23andMe allrs199821258
SNP Nexus

SNPshotrs199821258
SNPdbers199821258
MSV3drs199821258
GWAS Ctlgrs199821258
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199821258(G;G)
Alt rs199821258(G;G)
Reference rs199821258(T;T)
Significance Pathogenic
Disease Joubert syndrome 6 Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6 Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94777876T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001439.4, RCV000050199.1,


[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.