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rs199422146

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs199422146(-;-)
Make rs199422146(-;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142524
GeneASPM
is asnp
is mentioned by
dbSNPrs199422146
dbSNP (old)rs199422146
ClinGenrs199422146
ebirs199422146
HLIrs199422146
Exacrs199422146
Gnomadrs199422146
Varsomers199422146
Maprs199422146
PheGenIrs199422146
Biobankrs199422146
1000 genomesrs199422146
hgdprs199422146
ensemblrs199422146
gopubmedrs199422146
geneviewrs199422146
scholarrs199422146
googlers199422146
pharmgkbrs199422146
gwascentralrs199422146
openSNPrs199422146
23andMers199422146
23andMe allrs199422146
SNP Nexus

SNPshotrs199422146
SNPdbers199422146
MSV3drs199422146
GWAS Ctlgrs199422146
Max Magnitude0
ClinVar
Risk rs199422146(-;-)
Alt rs199422146(-;-)
Reference Rs199422146(AG;AG)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 Microcephaly not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 Microcephaly not provided
Reversed 1
HGVS NC_000001.10:g.197111652_197111653delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020749.1, RCV000454234.1, RCV000483372.1,