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rs587783227

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783227(C;T)
Make rs587783227(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197128635
GeneASPM
is asnp
is mentioned by
dbSNPrs587783227
ebirs587783227
HLIrs587783227
Exacrs587783227
Varsomers587783227
Maprs587783227
PheGenIrs587783227
hapmaprs587783227
1000 genomesrs587783227
hgdprs587783227
ensemblrs587783227
gopubmedrs587783227
geneviewrs587783227
scholarrs587783227
googlers587783227
pharmgkbrs587783227
gwascentralrs587783227
openSNPrs587783227
23andMers587783227
23andMe allrs587783227
SNP Nexus

SNPshotrs587783227
SNPdbers587783227
MSV3drs587783227
GWAS Ctlgrs587783227
Max Magnitude0
ClinVar
Risk rs587783227(T;T)
Alt rs587783227(T;T)
Reference rs587783227(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.197097765G>A
CLNSRC
CLNACC RCV000145102.1,