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

rs587783277

From SNPedia

Orientationminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587783277(-;-)
Make rs587783277(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197143448
GeneASPM
is asnp
is mentioned by
dbSNPrs587783277
ebirs587783277
HLIrs587783277
Exacrs587783277
Varsomers587783277
Maprs587783277
PheGenIrs587783277
hapmaprs587783277
1000 genomesrs587783277
hgdprs587783277
ensemblrs587783277
gopubmedrs587783277
geneviewrs587783277
scholarrs587783277
googlers587783277
pharmgkbrs587783277
gwascentralrs587783277
openSNPrs587783277
23andMers587783277
23andMe allrs587783277
SNP Nexus

SNPshotrs587783277
SNPdbers587783277
MSV3drs587783277
GWAS Ctlgrs587783277
Max Magnitude0
ClinVar
Risk rs587783277(;)
Alt rs587783277(;)
Reference rs587783277(AA;AA)
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.197112578_197112579delTT
CLNSRC
CLNACC RCV000145208.1,