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rs587779736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779736(A;A)
Make rs587779736(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position93780626
GeneTMEM67
is asnp
is mentioned by
dbSNPrs587779736
dbSNP (classic)rs587779736
ClinGenrs587779736
ebirs587779736
HLIrs587779736
Exacrs587779736
Gnomadrs587779736
Varsomers587779736
LitVarrs587779736
Maprs587779736
PheGenIrs587779736
Biobankrs587779736
1000 genomesrs587779736
hgdprs587779736
ensemblrs587779736
geneviewrs587779736
scholarrs587779736
googlers587779736
pharmgkbrs587779736
gwascentralrs587779736
openSNPrs587779736
23andMers587779736
SNPshotrs587779736
SNPdbers587779736
MSV3drs587779736
GWAS Ctlgrs587779736
Max Magnitude0
ClinVar
Risk rs587779736(A;A)
Alt rs587779736(A;A)
Reference Rs587779736(G;G)
Significance Probable-Pathogenic
Disease Meckel-Gruber syndrome
Variation info
Gene TMEM67
CLNDBN Meckel-Gruber syndrome
Reversed 0
HGVS NC_000008.10:g.94792854G>A
CLNSRC
CLNACC RCV000114249.1,