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rs587783289

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783289(-;-)
Make rs587783289(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197092041
GeneASPM
is asnp
is mentioned by
dbSNPrs587783289
ebirs587783289
HLIrs587783289
Exacrs587783289
Varsomers587783289
Maprs587783289
PheGenIrs587783289
hapmaprs587783289
1000 genomesrs587783289
hgdprs587783289
ensemblrs587783289
gopubmedrs587783289
geneviewrs587783289
scholarrs587783289
googlers587783289
pharmgkbrs587783289
gwascentralrs587783289
openSNPrs587783289
23andMers587783289
23andMe allrs587783289
SNP Nexus

SNPshotrs587783289
SNPdbers587783289
MSV3drs587783289
GWAS Ctlgrs587783289
Max Magnitude0
ClinVar
Risk rs587783289(;)
Alt rs587783289(;)
Reference rs587783289(AG;AG)
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.197061171_197061172delCT
CLNSRC
CLNACC RCV000145229.1,