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rs192919234

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs192919234(A;A)
Make rs192919234(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50240214
GeneTUBGCP6
is asnp
is mentioned by
dbSNPrs192919234
ebirs192919234
HLIrs192919234
Exacrs192919234
Varsomers192919234
Maprs192919234
PheGenIrs192919234
hapmaprs192919234
1000 genomesrs192919234
hgdprs192919234
ensemblrs192919234
gopubmedrs192919234
geneviewrs192919234
scholarrs192919234
googlers192919234
pharmgkbrs192919234
gwascentralrs192919234
openSNPrs192919234
23andMers192919234
23andMe allrs192919234
SNP Nexus

SNPshotrs192919234
SNPdbers192919234
MSV3drs192919234
GWAS Ctlgrs192919234
Max Magnitude0
ClinVar
Risk rs192919234(A;A)
Alt rs192919234(A;A)
Reference rs192919234(G;G)
Significance Pathogenic
Disease Microcephaly and chorioretinopathy with or without mental retardation
Variation info
Gene TUBGCP6
CLNDBN Microcephaly and chorioretinopathy with or without mental retardation
Reversed 0
HGVS NC_000022.10:g.50678643G>A
CLNSRC
CLNACC RCV000193685.1,