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rs202194355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202194355(C;C)
Make rs202194355(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position47282364
GeneSTIL
is asnp
is mentioned by
dbSNPrs202194355
dbSNP (classic)rs202194355
ClinGenrs202194355
ebirs202194355
HLIrs202194355
Exacrs202194355
Gnomadrs202194355
Varsomers202194355
LitVarrs202194355
Maprs202194355
PheGenIrs202194355
Biobankrs202194355
1000 genomesrs202194355
hgdprs202194355
ensemblrs202194355
geneviewrs202194355
scholarrs202194355
googlers202194355
pharmgkbrs202194355
gwascentralrs202194355
openSNPrs202194355
23andMers202194355
SNPshotrs202194355
SNPdbers202194355
MSV3drs202194355
GWAS Ctlgrs202194355
Max Magnitude0
ClinVar
Risk rs202194355(C;C)
Alt rs202194355(C;C)
Reference Rs202194355(G;G)
Significance Probable-Pathogenic
Disease Inborn genetic diseases Primary Microcephaly
Variation info
Gene STIL
CLNDBN Inborn genetic diseases Primary Microcephaly, Recessive
Reversed 0
HGVS NC_000001.10:g.47748036G>C
CLNSRC
CLNACC RCV000210708.1, RCV000394392.1,