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rs199422141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422141(G;T)
Make rs199422141(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197142886
GeneASPM
is asnp
is mentioned by
dbSNPrs199422141
ebirs199422141
HLIrs199422141
Exacrs199422141
Varsomers199422141
Maprs199422141
PheGenIrs199422141
hapmaprs199422141
1000 genomesrs199422141
hgdprs199422141
ensemblrs199422141
gopubmedrs199422141
geneviewrs199422141
scholarrs199422141
googlers199422141
pharmgkbrs199422141
gwascentralrs199422141
openSNPrs199422141
23andMers199422141
23andMe allrs199422141
SNP Nexus

SNPshotrs199422141
SNPdbers199422141
MSV3drs199422141
GWAS Ctlgrs199422141
Max Magnitude0
ClinVar
Risk rs199422141(C,T;C,T)
Alt rs199422141(C,T;C,T)
Reference rs199422141(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.197112016C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020744.1,