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rs587783247

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783247(A;A)
Make rs587783247(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197104055
GeneASPM
is asnp
is mentioned by
dbSNPrs587783247
ebirs587783247
HLIrs587783247
Exacrs587783247
Varsomers587783247
Maprs587783247
PheGenIrs587783247
hapmaprs587783247
1000 genomesrs587783247
hgdprs587783247
ensemblrs587783247
gopubmedrs587783247
geneviewrs587783247
scholarrs587783247
googlers587783247
pharmgkbrs587783247
gwascentralrs587783247
openSNPrs587783247
23andMers587783247
23andMe allrs587783247
SNP Nexus

SNPshotrs587783247
SNPdbers587783247
MSV3drs587783247
GWAS Ctlgrs587783247
Max Magnitude0
ClinVar
Risk rs587783247(A;A)
Alt rs587783247(A;A)
Reference rs587783247(T;T)
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.197073185A>T
CLNSRC
CLNACC RCV000145139.1,