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

rs587783278

From SNPedia

Orientationminus
Geno Mag Summary
(GAAA;GAAA) 0 common in clinvar
Make rs587783278(-;-)
Make rs587783278(-;GAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197101115
GeneASPM
is asnp
is mentioned by
dbSNPrs587783278
ebirs587783278
HLIrs587783278
Exacrs587783278
Varsomers587783278
Maprs587783278
PheGenIrs587783278
hapmaprs587783278
1000 genomesrs587783278
hgdprs587783278
ensemblrs587783278
gopubmedrs587783278
geneviewrs587783278
scholarrs587783278
googlers587783278
pharmgkbrs587783278
gwascentralrs587783278
openSNPrs587783278
23andMers587783278
23andMe allrs587783278
SNP Nexus

SNPshotrs587783278
SNPdbers587783278
MSV3drs587783278
GWAS Ctlgrs587783278
Max Magnitude0
ClinVar
Risk rs587783278(;)
Alt rs587783278(;)
Reference rs587783278(GAAA;GAAA)
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.197070245_197070248delTTTC
CLNSRC
CLNACC RCV000145209.1,