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rs386834204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834204(-;-)
Make rs386834204(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position93765643
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834204
ebirs386834204
HLIrs386834204
Exacrs386834204
Varsomers386834204
Maprs386834204
PheGenIrs386834204
hapmaprs386834204
1000 genomesrs386834204
hgdprs386834204
ensemblrs386834204
gopubmedrs386834204
geneviewrs386834204
scholarrs386834204
googlers386834204
pharmgkbrs386834204
gwascentralrs386834204
openSNPrs386834204
23andMers386834204
23andMe allrs386834204
SNP Nexus

SNPshotrs386834204
SNPdbers386834204
MSV3drs386834204
GWAS Ctlgrs386834204
Max Magnitude0
ClinVar
Risk rs386834204(;)
Alt rs386834204(;)
Reference rs386834204(A;A)
Significance Other
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94777871delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001431.6,


[PMID 16415887] The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.