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rs386834185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834185(C;C)
Make rs386834185(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93787843
GeneTMEM67
is asnp
is mentioned by
dbSNPrs386834185
ebirs386834185
HLIrs386834185
Exacrs386834185
Varsomers386834185
Maprs386834185
PheGenIrs386834185
hapmaprs386834185
1000 genomesrs386834185
hgdprs386834185
ensemblrs386834185
gopubmedrs386834185
geneviewrs386834185
scholarrs386834185
googlers386834185
pharmgkbrs386834185
gwascentralrs386834185
openSNPrs386834185
23andMers386834185
23andMe allrs386834185
SNP Nexus

SNPshotrs386834185
SNPdbers386834185
MSV3drs386834185
GWAS Ctlgrs386834185
Max Magnitude0
ClinVar
Risk rs386834185(C,T;C,T)
Alt rs386834185(C,T;C,T)
Reference rs386834185(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 3
Variation info
Gene TMEM67
CLNDBN Meckel syndrome type 3
Reversed 0
HGVS NC_000008.10:g.94800071G>C
CLNSRC ClinVar
CLNACC RCV000050180.1,


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