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rs121918609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918609(C;T)
Make rs121918609(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position47251285
GeneSTIL
is asnp
is mentioned by
dbSNPrs121918609
ebirs121918609
HLIrs121918609
Exacrs121918609
Varsomers121918609
Maprs121918609
PheGenIrs121918609
hapmaprs121918609
1000 genomesrs121918609
hgdprs121918609
ensemblrs121918609
gopubmedrs121918609
geneviewrs121918609
scholarrs121918609
googlers121918609
pharmgkbrs121918609
gwascentralrs121918609
openSNPrs121918609
23andMers121918609
23andMe allrs121918609
SNP Nexus

SNPshotrs121918609
SNPdbers121918609
MSV3drs121918609
GWAS Ctlgrs121918609
Max Magnitude0
OMIM181590
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918609(T;T)
Alt rs121918609(T;T)
Reference rs121918609(C;C)
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.47716957G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013813.23,