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rs724159975

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159975(C;T)
Make rs724159975(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50224196
GeneTUBGCP6
is asnp
is mentioned by
dbSNPrs724159975
ebirs724159975
HLIrs724159975
Exacrs724159975
Varsomers724159975
Maprs724159975
PheGenIrs724159975
hapmaprs724159975
1000 genomesrs724159975
hgdprs724159975
ensemblrs724159975
gopubmedrs724159975
geneviewrs724159975
scholarrs724159975
googlers724159975
pharmgkbrs724159975
gwascentralrs724159975
openSNPrs724159975
23andMers724159975
23andMe allrs724159975
SNP Nexus

SNPshotrs724159975
SNPdbers724159975
MSV3drs724159975
GWAS Ctlgrs724159975
Max Magnitude0
ClinVar
Risk rs724159975(T;T)
Alt rs724159975(T;T)
Reference rs724159975(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.50662625G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149798.6,