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

rs587783292

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783292(C;T)
Make rs587783292(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197091032
GeneASPM
is asnp
is mentioned by
dbSNPrs587783292
ebirs587783292
HLIrs587783292
Exacrs587783292
Varsomers587783292
Maprs587783292
PheGenIrs587783292
hapmaprs587783292
1000 genomesrs587783292
hgdprs587783292
ensemblrs587783292
gopubmedrs587783292
geneviewrs587783292
scholarrs587783292
googlers587783292
pharmgkbrs587783292
gwascentralrs587783292
openSNPrs587783292
23andMers587783292
23andMe allrs587783292
SNP Nexus

SNPshotrs587783292
SNPdbers587783292
MSV3drs587783292
GWAS Ctlgrs587783292
Max Magnitude0
ClinVar
Risk rs587783292(T;T)
Alt rs587783292(T;T)
Reference rs587783292(C;C)
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.197060162G>A
CLNSRC
CLNACC RCV000145235.1, RCV000221824.1,