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rs863225464

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225464(A;A)
Make rs863225464(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position47301556
GeneSTIL
is asnp
is mentioned by
dbSNPrs863225464
ebirs863225464
HLIrs863225464
Exacrs863225464
Varsomers863225464
Maprs863225464
PheGenIrs863225464
hapmaprs863225464
1000 genomesrs863225464
hgdprs863225464
ensemblrs863225464
gopubmedrs863225464
geneviewrs863225464
scholarrs863225464
googlers863225464
pharmgkbrs863225464
gwascentralrs863225464
openSNPrs863225464
23andMers863225464
23andMe allrs863225464
SNP Nexus

SNPshotrs863225464
SNPdbers863225464
MSV3drs863225464
GWAS Ctlgrs863225464
Max Magnitude0
ClinVar
Risk rs863225464(A;A)
Alt rs863225464(A;A)
Reference rs863225464(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 7
Variation info
Gene STIL
CLNDBN Primary autosomal recessive microcephaly 7
Reversed 1
HGVS NC_000001.10:g.47767228C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202415.2,