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rs139912214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139912214(C;G)
Make rs139912214(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position47281003
GeneSTIL
is asnp
is mentioned by
dbSNPrs139912214
dbSNP (old)rs139912214
ClinGenrs139912214
ebirs139912214
HLIrs139912214
Exacrs139912214
Gnomadrs139912214
Varsomers139912214
Maprs139912214
PheGenIrs139912214
Biobankrs139912214
1000 genomesrs139912214
hgdprs139912214
ensemblrs139912214
gopubmedrs139912214
geneviewrs139912214
scholarrs139912214
googlers139912214
pharmgkbrs139912214
gwascentralrs139912214
openSNPrs139912214
23andMers139912214
23andMe allrs139912214
SNPshotrs139912214
SNPdbers139912214
MSV3drs139912214
GWAS Ctlgrs139912214
Max Magnitude0
ClinVar
Risk rs139912214(G;G)
Alt rs139912214(G;G)
Reference Rs139912214(C;C)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 7 not specified Inborn genetic diseases Abnormality of brain morphology
Variation info
Gene STIL
CLNDBN Primary autosomal recessive microcephaly 7 not specified Inborn genetic diseases Abnormality of brain morphology
Reversed 0
HGVS NC_000001.10:g.47746675C>G
CLNSRC
CLNACC RCV000147682.1, RCV000174311.3, RCV000210579.1, RCV000454157.1,