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rs587783240

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783240(-;-)
Make rs587783240(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197117908
GeneASPM
is asnp
is mentioned by
dbSNPrs587783240
ebirs587783240
HLIrs587783240
Exacrs587783240
Varsomers587783240
Maprs587783240
PheGenIrs587783240
hapmaprs587783240
1000 genomesrs587783240
hgdprs587783240
ensemblrs587783240
gopubmedrs587783240
geneviewrs587783240
scholarrs587783240
googlers587783240
pharmgkbrs587783240
gwascentralrs587783240
openSNPrs587783240
23andMers587783240
23andMe allrs587783240
SNP Nexus

SNPshotrs587783240
SNPdbers587783240
MSV3drs587783240
GWAS Ctlgrs587783240
Max Magnitude0
ClinVar
Risk rs587783240(;)
Alt rs587783240(;)
Reference rs587783240(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.197087038_197087039delCT
CLNSRC
CLNACC RCV000145124.1,