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rs587783285

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783285(A;A)
Make rs587783285(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197096082
GeneASPM
is asnp
is mentioned by
dbSNPrs587783285
ebirs587783285
HLIrs587783285
Exacrs587783285
Varsomers587783285
Maprs587783285
PheGenIrs587783285
hapmaprs587783285
1000 genomesrs587783285
hgdprs587783285
ensemblrs587783285
gopubmedrs587783285
geneviewrs587783285
scholarrs587783285
googlers587783285
pharmgkbrs587783285
gwascentralrs587783285
openSNPrs587783285
23andMers587783285
23andMe allrs587783285
SNP Nexus

SNPshotrs587783285
SNPdbers587783285
MSV3drs587783285
GWAS Ctlgrs587783285
Max Magnitude0
ClinVar
Risk rs587783285(A;A)
Alt rs587783285(A;A)
Reference rs587783285(G;G)
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.197065212C>T
CLNSRC
CLNACC RCV000145222.1,