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rs199422131

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422131(-;-)
Make rs199422131(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197146364
GeneASPM
is asnp
is mentioned by
dbSNPrs199422131
dbSNP (old)rs199422131
ClinGenrs199422131
ebirs199422131
HLIrs199422131
Exacrs199422131
Gnomadrs199422131
Varsomers199422131
Maprs199422131
PheGenIrs199422131
Biobankrs199422131
1000 genomesrs199422131
hgdprs199422131
ensemblrs199422131
gopubmedrs199422131
geneviewrs199422131
scholarrs199422131
googlers199422131
pharmgkbrs199422131
gwascentralrs199422131
openSNPrs199422131
23andMers199422131
23andMe allrs199422131
SNPshotrs199422131
SNPdbers199422131
MSV3drs199422131
GWAS Ctlgrs199422131
Merged fromRs199422132
Max Magnitude0
ClinVar
Risk rs199422131(-;-)
Alt rs199422131(-;-)
Reference Rs199422131(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,