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rs199422182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422182(-;-)
Make rs199422182(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position197096141
GeneASPM
is asnp
is mentioned by
dbSNPrs199422182
ebirs199422182
HLIrs199422182
Exacrs199422182
Varsomers199422182
Maprs199422182
PheGenIrs199422182
hapmaprs199422182
1000 genomesrs199422182
hgdprs199422182
ensemblrs199422182
gopubmedrs199422182
geneviewrs199422182
scholarrs199422182
googlers199422182
pharmgkbrs199422182
gwascentralrs199422182
openSNPrs199422182
23andMers199422182
23andMe allrs199422182
SNP Nexus

SNPshotrs199422182
SNPdbers199422182
MSV3drs199422182
GWAS Ctlgrs199422182
Max Magnitude0
ClinVar
Risk rs199422182(;)
Alt rs199422182(;)
Reference rs199422182(C;C)
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.197065271delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020809.1,