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rs727502807

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727502807(-;-)
Make rs727502807(-;T)
Make rs727502807(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50219438
GeneTUBGCP6
is asnp
is mentioned by
dbSNPrs727502807
ebirs727502807
HLIrs727502807
Exacrs727502807
Varsomers727502807
Maprs727502807
PheGenIrs727502807
hapmaprs727502807
1000 genomesrs727502807
hgdprs727502807
ensemblrs727502807
gopubmedrs727502807
geneviewrs727502807
scholarrs727502807
googlers727502807
pharmgkbrs727502807
gwascentralrs727502807
openSNPrs727502807
23andMers727502807
23andMe allrs727502807
SNP Nexus

SNPshotrs727502807
SNPdbers727502807
MSV3drs727502807
GWAS Ctlgrs727502807
Max Magnitude0
ClinVar
Risk rs727502807(T;T)
Alt rs727502807(T;T)
Reference rs727502807(;)
Significance Pathogenic
Disease Microcephaly with chorioretinopathy
Variation info
Gene TUBGCP6
CLNDBN Microcephaly with chorioretinopathy, autosomal recessive
Reversed 1
HGVS NC_000022.10:g.50657867_50657868insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000149797.5,