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rs724159997

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159997(C;T)
Make rs724159997(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50221196
GeneTUBGCP6
is asnp
is mentioned by
dbSNPrs724159997
ebirs724159997
HLIrs724159997
Exacrs724159997
Varsomers724159997
Maprs724159997
PheGenIrs724159997
hapmaprs724159997
1000 genomesrs724159997
hgdprs724159997
ensemblrs724159997
gopubmedrs724159997
geneviewrs724159997
scholarrs724159997
googlers724159997
pharmgkbrs724159997
gwascentralrs724159997
openSNPrs724159997
23andMers724159997
23andMe allrs724159997
SNP Nexus

SNPshotrs724159997
SNPdbers724159997
MSV3drs724159997
GWAS Ctlgrs724159997
Max Magnitude0
ClinVar
Risk rs724159997(T;T)
Alt rs724159997(T;T)
Reference rs724159997(C;C)
Significance Pathogenic
Disease Microcephaly with chorioretinopathy
Variation info
Gene TUBGCP6
CLNDBN Microcephaly with chorioretinopathy, autosomal recessive
Reversed 1
HGVS NC_000022.10:g.50659625G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149801.6,