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

rs587783263

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587783263(-;-)
Make rs587783263(-;ACTG)
Make rs587783263(ACTG;ACTG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197102126
GeneASPM
is asnp
is mentioned by
dbSNPrs587783263
ebirs587783263
HLIrs587783263
Exacrs587783263
Varsomers587783263
Maprs587783263
PheGenIrs587783263
hapmaprs587783263
1000 genomesrs587783263
hgdprs587783263
ensemblrs587783263
gopubmedrs587783263
geneviewrs587783263
scholarrs587783263
googlers587783263
pharmgkbrs587783263
gwascentralrs587783263
openSNPrs587783263
23andMers587783263
23andMe allrs587783263
SNP Nexus

SNPshotrs587783263
SNPdbers587783263
MSV3drs587783263
GWAS Ctlgrs587783263
Max Magnitude0
ClinVar
Risk rs587783263(ACTG;ACTG)
Alt rs587783263(ACTG;ACTG)
Reference rs587783263(;)
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,