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rs587783264

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587783264(-;-)
Make rs587783264(-;ACTG)
Make rs587783264(ACTG;ACTG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197102122
GeneASPM
is asnp
is mentioned by
dbSNPrs587783264
ebirs587783264
HLIrs587783264
Exacrs587783264
Varsomers587783264
Maprs587783264
PheGenIrs587783264
hapmaprs587783264
1000 genomesrs587783264
hgdprs587783264
ensemblrs587783264
gopubmedrs587783264
geneviewrs587783264
scholarrs587783264
googlers587783264
pharmgkbrs587783264
gwascentralrs587783264
openSNPrs587783264
23andMers587783264
23andMe allrs587783264
SNP Nexus

SNPshotrs587783264
SNPdbers587783264
MSV3drs587783264
GWAS Ctlgrs587783264
Max Magnitude0
ClinVar
Risk rs587783264(ACTG;ACTG)
Alt rs587783264(ACTG;ACTG)
Reference rs587783264(;)
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.197071253_197071256dupCAGT
CLNSRC
CLNACC RCV000145177.3,