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rs587783221

From SNPedia

Orientationminus
Geno Mag Summary
(AAGA;AAGA) 0 common in clinvar
Make rs587783221(-;-)
Make rs587783221(-;AAGA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197142523
GeneASPM
is asnp
is mentioned by
dbSNPrs587783221
ebirs587783221
HLIrs587783221
Exacrs587783221
Varsomers587783221
Maprs587783221
PheGenIrs587783221
hapmaprs587783221
1000 genomesrs587783221
hgdprs587783221
ensemblrs587783221
gopubmedrs587783221
geneviewrs587783221
scholarrs587783221
googlers587783221
pharmgkbrs587783221
gwascentralrs587783221
openSNPrs587783221
23andMers587783221
23andMe allrs587783221
SNP Nexus

SNPshotrs587783221
SNPdbers587783221
MSV3drs587783221
GWAS Ctlgrs587783221
Max Magnitude0
ClinVar
Risk rs587783221(;)
Alt rs587783221(;)
Reference rs587783221(AAGA;AAGA)
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.197111653_197111656delTCTT
CLNSRC
CLNACC RCV000145087.1,