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rs140602858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140602858(A;A)
Make rs140602858(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197121974
GeneASPM
is asnp
is mentioned by
dbSNPrs140602858
ebirs140602858
HLIrs140602858
Exacrs140602858
Varsomers140602858
Maprs140602858
PheGenIrs140602858
hapmaprs140602858
1000 genomesrs140602858
hgdprs140602858
ensemblrs140602858
gopubmedrs140602858
geneviewrs140602858
scholarrs140602858
googlers140602858
pharmgkbrs140602858
gwascentralrs140602858
openSNPrs140602858
23andMers140602858
23andMe allrs140602858
SNP Nexus

SNPshotrs140602858
SNPdbers140602858
MSV3drs140602858
GWAS Ctlgrs140602858
Max Magnitude0
ClinVar
Risk rs140602858(A;A)
Alt rs140602858(A;A)
Reference rs140602858(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5
Reversed 0
HGVS NC_000001.10:g.197091104G>A
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020773.2,