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rs199422154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422154(A;A)
Make rs199422154(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197125046
GeneASPM
is asnp
is mentioned by
dbSNPrs199422154
ebirs199422154
HLIrs199422154
Exacrs199422154
Varsomers199422154
Maprs199422154
PheGenIrs199422154
hapmaprs199422154
1000 genomesrs199422154
hgdprs199422154
ensemblrs199422154
gopubmedrs199422154
geneviewrs199422154
scholarrs199422154
googlers199422154
pharmgkbrs199422154
gwascentralrs199422154
openSNPrs199422154
23andMers199422154
23andMe allrs199422154
SNP Nexus

SNPshotrs199422154
SNPdbers199422154
MSV3drs199422154
GWAS Ctlgrs199422154
Max Magnitude0
ClinVar
Risk rs199422154(A;A)
Alt rs199422154(A;A)
Reference rs199422154(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.197094176C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020762.1,