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rs587783266

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587783266(-;-)
Make rs587783266(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197102090
GeneASPM
is asnp
is mentioned by
dbSNPrs587783266
ebirs587783266
HLIrs587783266
Exacrs587783266
Varsomers587783266
Maprs587783266
PheGenIrs587783266
hapmaprs587783266
1000 genomesrs587783266
hgdprs587783266
ensemblrs587783266
gopubmedrs587783266
geneviewrs587783266
scholarrs587783266
googlers587783266
pharmgkbrs587783266
gwascentralrs587783266
openSNPrs587783266
23andMers587783266
23andMe allrs587783266
SNP Nexus

SNPshotrs587783266
SNPdbers587783266
MSV3drs587783266
GWAS Ctlgrs587783266
Max Magnitude0
ClinVar
Risk rs587783266(;)
Alt rs587783266(;)
Reference rs587783266(CT;CT)
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.197071220_197071221delAG
CLNSRC
CLNACC RCV000145180.3,