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rs587783220

From SNPedia

Orientationminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587783220(-;-)
Make rs587783220(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197142580
GeneASPM
is asnp
is mentioned by
dbSNPrs587783220
ebirs587783220
HLIrs587783220
Exacrs587783220
Varsomers587783220
Maprs587783220
PheGenIrs587783220
hapmaprs587783220
1000 genomesrs587783220
hgdprs587783220
ensemblrs587783220
gopubmedrs587783220
geneviewrs587783220
scholarrs587783220
googlers587783220
pharmgkbrs587783220
gwascentralrs587783220
openSNPrs587783220
23andMers587783220
23andMe allrs587783220
SNP Nexus

SNPshotrs587783220
SNPdbers587783220
MSV3drs587783220
GWAS Ctlgrs587783220
Max Magnitude0
ClinVar
Risk rs587783220(;)
Alt rs587783220(;)
Reference rs587783220(TT;TT)
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.197111710_197111711delAA
CLNSRC
CLNACC RCV000145085.1,