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rs199422132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422132(-;-)
Make rs199422132(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197146361
GeneASPM
is asnp
is mentioned by
dbSNPrs199422132
ebirs199422132
HLIrs199422132
Exacrs199422132
Varsomers199422132
Maprs199422132
PheGenIrs199422132
hapmaprs199422132
1000 genomesrs199422132
hgdprs199422132
ensemblrs199422132
gopubmedrs199422132
geneviewrs199422132
scholarrs199422132
googlers199422132
pharmgkbrs199422132
gwascentralrs199422132
openSNPrs199422132
23andMers199422132
23andMe allrs199422132
SNP Nexus

SNPshotrs199422132
SNPdbers199422132
MSV3drs199422132
GWAS Ctlgrs199422132
Max Magnitude0
ClinVar
Risk rs199422132(;)
Alt rs199422132(;)
Reference rs199422132(G;G)
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.197115491delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020797.3,