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rs386834200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
(CA;CA) 0 common in clinvar
Make rs386834200(-;-)
Make rs386834200(-;AC)
ReferenceGRCh38 38.1/141
Chromosome8
Position93758553
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834200
ebirs386834200
HLIrs386834200
Exacrs386834200
Varsomers386834200
Maprs386834200
PheGenIrs386834200
hapmaprs386834200
1000 genomesrs386834200
hgdprs386834200
ensemblrs386834200
gopubmedrs386834200
geneviewrs386834200
scholarrs386834200
googlers386834200
pharmgkbrs386834200
gwascentralrs386834200
openSNPrs386834200
23andMers386834200
23andMe allrs386834200
SNP Nexus

SNPshotrs386834200
SNPdbers386834200
MSV3drs386834200
GWAS Ctlgrs386834200
Max Magnitude0
ClinVar
Risk rs386834200(;)
Alt rs386834200(;)
Reference rs386834200(CA;CA)
Significance Other
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94770781_94770782delAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001430.6,


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