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rs587783248

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783248(C;T)
Make rs587783248(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197104018
GeneASPM
is asnp
is mentioned by
dbSNPrs587783248
ebirs587783248
HLIrs587783248
Exacrs587783248
Varsomers587783248
Maprs587783248
PheGenIrs587783248
hapmaprs587783248
1000 genomesrs587783248
hgdprs587783248
ensemblrs587783248
gopubmedrs587783248
geneviewrs587783248
scholarrs587783248
googlers587783248
pharmgkbrs587783248
gwascentralrs587783248
openSNPrs587783248
23andMers587783248
23andMe allrs587783248
SNP Nexus

SNPshotrs587783248
SNPdbers587783248
MSV3drs587783248
GWAS Ctlgrs587783248
Max Magnitude0
ClinVar
Risk rs587783248(T;T)
Alt rs587783248(T;T)
Reference rs587783248(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.197073148G>A
CLNSRC
CLNACC RCV000145142.1,