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rs587783288

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783288(A;A)
Make rs587783288(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197093242
GeneASPM
is asnp
is mentioned by
dbSNPrs587783288
ebirs587783288
HLIrs587783288
Exacrs587783288
Varsomers587783288
Maprs587783288
PheGenIrs587783288
hapmaprs587783288
1000 genomesrs587783288
hgdprs587783288
ensemblrs587783288
gopubmedrs587783288
geneviewrs587783288
scholarrs587783288
googlers587783288
pharmgkbrs587783288
gwascentralrs587783288
openSNPrs587783288
23andMers587783288
23andMe allrs587783288
SNP Nexus

SNPshotrs587783288
SNPdbers587783288
MSV3drs587783288
GWAS Ctlgrs587783288
Max Magnitude0
ClinVar
Risk rs587783288(A;A)
Alt rs587783288(A;A)
Reference rs587783288(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.197062372A>T
CLNSRC
CLNACC RCV000145226.1,