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rs587783270

From SNPedia

Orientationminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs587783270(-;-)
Make rs587783270(-;AG)
Make rs587783270(AG;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197101469
GeneASPM
is asnp
is mentioned by
dbSNPrs587783270
ebirs587783270
HLIrs587783270
Exacrs587783270
Varsomers587783270
Maprs587783270
PheGenIrs587783270
hapmaprs587783270
1000 genomesrs587783270
hgdprs587783270
ensemblrs587783270
gopubmedrs587783270
geneviewrs587783270
scholarrs587783270
googlers587783270
pharmgkbrs587783270
gwascentralrs587783270
openSNPrs587783270
23andMers587783270
23andMe allrs587783270
SNP Nexus

SNPshotrs587783270
SNPdbers587783270
MSV3drs587783270
GWAS Ctlgrs587783270
Max Magnitude0
ClinVar
Risk rs587783270(;)
Alt rs587783270(;)
Reference rs587783270(GA;GA)
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.197070598_197070599delTC
CLNSRC
CLNACC RCV000020796.4,