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rs587783282

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783282(C;T)
Make rs587783282(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197100547
GeneASPM
is asnp
is mentioned by
dbSNPrs587783282
ebirs587783282
HLIrs587783282
Exacrs587783282
Varsomers587783282
Maprs587783282
PheGenIrs587783282
hapmaprs587783282
1000 genomesrs587783282
hgdprs587783282
ensemblrs587783282
gopubmedrs587783282
geneviewrs587783282
scholarrs587783282
googlers587783282
pharmgkbrs587783282
gwascentralrs587783282
openSNPrs587783282
23andMers587783282
23andMe allrs587783282
SNP Nexus

SNPshotrs587783282
SNPdbers587783282
MSV3drs587783282
GWAS Ctlgrs587783282
Max Magnitude0
ClinVar
Risk rs587783282(T;T)
Alt rs587783282(T;T)
Reference rs587783282(C;C)
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.197069677G>A
CLNSRC
CLNACC RCV000145218.1,