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rs387907019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907019(G;G)
Make rs387907019(G;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50217738
GeneSYNGAP1, TUBGCP6
is asnp
is mentioned by
dbSNPrs387907019
ebirs387907019
HLIrs387907019
Exacrs387907019
Varsomers387907019
Maprs387907019
PheGenIrs387907019
hapmaprs387907019
1000 genomesrs387907019
hgdprs387907019
ensemblrs387907019
gopubmedrs387907019
geneviewrs387907019
scholarrs387907019
googlers387907019
pharmgkbrs387907019
gwascentralrs387907019
openSNPrs387907019
23andMers387907019
23andMe allrs387907019
SNP Nexus

SNPshotrs387907019
SNPdbers387907019
MSV3drs387907019
GWAS Ctlgrs387907019
Max Magnitude0
ClinVar
Risk rs387907019(C,G;C,G)
Alt rs387907019(C,G;C,G)
Reference rs387907019(T;T)
Significance Pathogenic
Disease Microcephaly with chorioretinopathy
Variation info
Gene SELO TUBGCP6
CLNDBN Microcephaly with chorioretinopathy, autosomal recessive
Reversed 1
HGVS NC_000022.10:g.50656167A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023794.5,