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rs199422206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422206(A;A)
Make rs199422206(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position47262902
GeneSTIL
is asnp
is mentioned by
dbSNPrs199422206
ebirs199422206
HLIrs199422206
Exacrs199422206
Varsomers199422206
Maprs199422206
PheGenIrs199422206
hapmaprs199422206
1000 genomesrs199422206
hgdprs199422206
ensemblrs199422206
gopubmedrs199422206
geneviewrs199422206
scholarrs199422206
googlers199422206
pharmgkbrs199422206
gwascentralrs199422206
openSNPrs199422206
23andMers199422206
23andMe allrs199422206
SNP Nexus

SNPshotrs199422206
SNPdbers199422206
MSV3drs199422206
GWAS Ctlgrs199422206
Max Magnitude0
ClinVar
Risk rs199422206(A;A)
Alt rs199422206(A;A)
Reference rs199422206(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.47728574C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013815.25,