Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783225

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783225(C;C)
Make rs587783225(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197133348
GeneASPM
is asnp
is mentioned by
dbSNPrs587783225
ebirs587783225
HLIrs587783225
Exacrs587783225
Varsomers587783225
Maprs587783225
PheGenIrs587783225
hapmaprs587783225
1000 genomesrs587783225
hgdprs587783225
ensemblrs587783225
gopubmedrs587783225
geneviewrs587783225
scholarrs587783225
googlers587783225
pharmgkbrs587783225
gwascentralrs587783225
openSNPrs587783225
23andMers587783225
23andMe allrs587783225
SNP Nexus

SNPshotrs587783225
SNPdbers587783225
MSV3drs587783225
GWAS Ctlgrs587783225
Max Magnitude0
ClinVar
Risk rs587783225(C;C)
Alt rs587783225(C;C)
Reference rs587783225(T;T)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 5 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197102478A>G
CLNSRC
CLNACC RCV000145099.1, RCV000222536.1,