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rs794726855

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794726855(-;T)
Make rs794726855(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position43383360
GeneTUBGCP4
is asnp
is mentioned by
dbSNPrs794726855
dbSNP (old)rs794726855
ClinGenrs794726855
ebirs794726855
HLIrs794726855
Exacrs794726855
Gnomadrs794726855
Varsomers794726855
Maprs794726855
PheGenIrs794726855
Biobankrs794726855
1000 genomesrs794726855
hgdprs794726855
ensemblrs794726855
gopubmedrs794726855
geneviewrs794726855
scholarrs794726855
googlers794726855
pharmgkbrs794726855
gwascentralrs794726855
openSNPrs794726855
23andMers794726855
23andMe allrs794726855
SNP Nexus

SNPshotrs794726855
SNPdbers794726855
MSV3drs794726855
GWAS Ctlgrs794726855
Max Magnitude0
ClinVar
Risk rs794726855(T;T)
Alt rs794726855(T;T)
Reference Rs794726855(-;-)
Significance Pathogenic
Disease Microcephaly and chorioretinopathy
Variation info
Gene TUBGCP4
CLNDBN Microcephaly and chorioretinopathy, autosomal recessive, 3
Reversed 0
HGVS NC_000015.9:g.43675558dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000170358.3,