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rs587783283

From SNPedia

Orientationminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587783283(-;-)
Make rs587783283(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197100539
GeneASPM
is asnp
is mentioned by
dbSNPrs587783283
ebirs587783283
HLIrs587783283
Exacrs587783283
Varsomers587783283
Maprs587783283
PheGenIrs587783283
hapmaprs587783283
1000 genomesrs587783283
hgdprs587783283
ensemblrs587783283
gopubmedrs587783283
geneviewrs587783283
scholarrs587783283
googlers587783283
pharmgkbrs587783283
gwascentralrs587783283
openSNPrs587783283
23andMers587783283
23andMe allrs587783283
SNP Nexus

SNPshotrs587783283
SNPdbers587783283
MSV3drs587783283
GWAS Ctlgrs587783283
Max Magnitude0
ClinVar
Risk rs587783283(;)
Alt rs587783283(;)
Reference rs587783283(AA;AA)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197069669_197069670delTT
CLNSRC
CLNACC RCV000145219.1, RCV000219877.1,