Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783245

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783245(-;-)
Make rs587783245(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197104522
GeneASPM
is asnp
is mentioned by
dbSNPrs587783245
ebirs587783245
HLIrs587783245
Exacrs587783245
Varsomers587783245
Maprs587783245
PheGenIrs587783245
hapmaprs587783245
1000 genomesrs587783245
hgdprs587783245
ensemblrs587783245
gopubmedrs587783245
geneviewrs587783245
scholarrs587783245
googlers587783245
pharmgkbrs587783245
gwascentralrs587783245
openSNPrs587783245
23andMers587783245
23andMe allrs587783245
SNP Nexus

SNPshotrs587783245
SNPdbers587783245
MSV3drs587783245
GWAS Ctlgrs587783245
Max Magnitude0
ClinVar
Risk rs587783245(;)
Alt rs587783245(;)
Reference rs587783245(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.197073652_197073653delCT
CLNSRC
CLNACC RCV000145134.1,