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rs398122976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122976(G;G)
Make rs398122976(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position47269857
GeneSTIL
is asnp
is mentioned by
dbSNPrs398122976
ebirs398122976
HLIrs398122976
Exacrs398122976
Varsomers398122976
Maprs398122976
PheGenIrs398122976
hapmaprs398122976
1000 genomesrs398122976
hgdprs398122976
ensemblrs398122976
gopubmedrs398122976
geneviewrs398122976
scholarrs398122976
googlers398122976
pharmgkbrs398122976
gwascentralrs398122976
openSNPrs398122976
23andMers398122976
23andMe allrs398122976
SNP Nexus

SNPshotrs398122976
SNPdbers398122976
MSV3drs398122976
GWAS Ctlgrs398122976
Max Magnitude0
ClinVar
Risk rs398122976(G;G)
Alt rs398122976(G;G)
Reference rs398122976(T;T)
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.47735529A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000077751.3,