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rs368449236

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs368449236(C;C)
Make rs368449236(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50221813
GeneTUBGCP6
is asnp
is mentioned by
dbSNPrs368449236
ebirs368449236
HLIrs368449236
Exacrs368449236
Varsomers368449236
Maprs368449236
PheGenIrs368449236
hapmaprs368449236
1000 genomesrs368449236
hgdprs368449236
ensemblrs368449236
gopubmedrs368449236
geneviewrs368449236
scholarrs368449236
googlers368449236
pharmgkbrs368449236
gwascentralrs368449236
openSNPrs368449236
23andMers368449236
23andMe allrs368449236
SNP Nexus

SNPshotrs368449236
SNPdbers368449236
MSV3drs368449236
GWAS Ctlgrs368449236
Max Magnitude0
ClinVar
Risk rs368449236(C;C)
Alt rs368449236(C;C)
Reference rs368449236(T;T)
Significance Pathogenic
Disease Microcephaly with chorioretinopathy
Variation info
Gene TUBGCP6
CLNDBN Microcephaly with chorioretinopathy, autosomal recessive
Reversed 0
HGVS NC_000022.10:g.50660242T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000149799.7,