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rs587784452

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784452(A;A)
Make rs587784452(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position47289563
GeneSTIL
is asnp
is mentioned by
dbSNPrs587784452
ebirs587784452
HLIrs587784452
Exacrs587784452
Varsomers587784452
Maprs587784452
PheGenIrs587784452
hapmaprs587784452
1000 genomesrs587784452
hgdprs587784452
ensemblrs587784452
gopubmedrs587784452
geneviewrs587784452
scholarrs587784452
googlers587784452
pharmgkbrs587784452
gwascentralrs587784452
openSNPrs587784452
23andMers587784452
23andMe allrs587784452
SNP Nexus

SNPshotrs587784452
SNPdbers587784452
MSV3drs587784452
GWAS Ctlgrs587784452
Max Magnitude0
ClinVar
Risk rs587784452(A;A)
Alt rs587784452(A;A)
Reference rs587784452(T;T)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 7
Variation info
Gene STIL
CLNDBN Primary autosomal recessive microcephaly 7
Reversed 1
HGVS NC_000001.10:g.47755235A>T
CLNSRC
CLNACC RCV000147700.1,