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

rs587783280

From SNPedia

Orientationminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs587783280(-;-)
Make rs587783280(-;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197100744
GeneASPM
is asnp
is mentioned by
dbSNPrs587783280
ebirs587783280
HLIrs587783280
Exacrs587783280
Varsomers587783280
Maprs587783280
PheGenIrs587783280
hapmaprs587783280
1000 genomesrs587783280
hgdprs587783280
ensemblrs587783280
gopubmedrs587783280
geneviewrs587783280
scholarrs587783280
googlers587783280
pharmgkbrs587783280
gwascentralrs587783280
openSNPrs587783280
23andMers587783280
23andMe allrs587783280
SNP Nexus

SNPshotrs587783280
SNPdbers587783280
MSV3drs587783280
GWAS Ctlgrs587783280
Max Magnitude0
ClinVar
Risk rs587783280(;)
Alt rs587783280(;)
Reference rs587783280(CA;CA)
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.197069874_197069875delTG
CLNSRC
CLNACC RCV000145215.1,