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rs794726856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726856(-;-)
Make rs794726856(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position43376593
GeneTUBGCP4
is asnp
is mentioned by
dbSNPrs794726856
ClinGenrs794726856
ebirs794726856
HLIrs794726856
Exacrs794726856
Varsomers794726856
Maprs794726856
PheGenIrs794726856
hapmaprs794726856
1000 genomesrs794726856
hgdprs794726856
ensemblrs794726856
gopubmedrs794726856
geneviewrs794726856
scholarrs794726856
googlers794726856
pharmgkbrs794726856
gwascentralrs794726856
openSNPrs794726856
23andMers794726856
23andMe allrs794726856
SNP Nexus

SNPshotrs794726856
SNPdbers794726856
MSV3drs794726856
GWAS Ctlgrs794726856
Max Magnitude0
ClinVar
Risk rs794726856(-;-)
Alt rs794726856(-;-)
Reference Rs794726856(T;T)
Significance Pathogenic
Disease Microcephaly and chorioretinopathy
Variation info
Gene TUBGCP4
CLNDBN Microcephaly and chorioretinopathy, autosomal recessive, 3
Reversed 0
HGVS NC_000015.9:g.43668791delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000170360.3,