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rs724159976

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159976(G;T)
Make rs724159976(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50220794
GeneTUBGCP6
is asnp
is mentioned by
dbSNPrs724159976
ebirs724159976
HLIrs724159976
Exacrs724159976
Varsomers724159976
Maprs724159976
PheGenIrs724159976
hapmaprs724159976
1000 genomesrs724159976
hgdprs724159976
ensemblrs724159976
gopubmedrs724159976
geneviewrs724159976
scholarrs724159976
googlers724159976
pharmgkbrs724159976
gwascentralrs724159976
openSNPrs724159976
23andMers724159976
23andMe allrs724159976
SNP Nexus

SNPshotrs724159976
SNPdbers724159976
MSV3drs724159976
GWAS Ctlgrs724159976
Max Magnitude0
ClinVar
Risk rs724159976(A,T;A,T)
Alt rs724159976(A,T;A,T)
Reference rs724159976(G;G)
Significance Pathogenic
Disease Microcephaly with chorioretinopathy
Variation info
Gene TUBGCP6
CLNDBN Microcephaly with chorioretinopathy, autosomal recessive
Reversed 1
HGVS NC_000022.10:g.50659223C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149800.6,