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rs199422156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGCTA;CGCTA) 0 common in clinvar
Make rs199422156(-;-)
Make rs199422156(-;CGCTA)
ReferenceGRCh38 38.1/141
Chromosome1
Position197122505
GeneASPM
is asnp
is mentioned by
dbSNPrs199422156
ebirs199422156
HLIrs199422156
Exacrs199422156
Varsomers199422156
Maprs199422156
PheGenIrs199422156
hapmaprs199422156
1000 genomesrs199422156
hgdprs199422156
ensemblrs199422156
gopubmedrs199422156
geneviewrs199422156
scholarrs199422156
googlers199422156
pharmgkbrs199422156
gwascentralrs199422156
openSNPrs199422156
23andMers199422156
23andMe allrs199422156
SNP Nexus

SNPshotrs199422156
SNPdbers199422156
MSV3drs199422156
GWAS Ctlgrs199422156
Max Magnitude0
ClinVar
Risk rs199422156(;)
Alt rs199422156(;)
Reference rs199422156(CGCTA;CGCTA)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 1
HGVS NC_000001.10:g.197091635_197091639delTAGCG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020766.1,