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rs587783215

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783215(C;T)
Make rs587783215(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197143114
GeneASPM
is asnp
is mentioned by
dbSNPrs587783215
ebirs587783215
HLIrs587783215
Exacrs587783215
Varsomers587783215
Maprs587783215
PheGenIrs587783215
hapmaprs587783215
1000 genomesrs587783215
hgdprs587783215
ensemblrs587783215
gopubmedrs587783215
geneviewrs587783215
scholarrs587783215
googlers587783215
pharmgkbrs587783215
gwascentralrs587783215
openSNPrs587783215
23andMers587783215
23andMe allrs587783215
SNP Nexus

SNPshotrs587783215
SNPdbers587783215
MSV3drs587783215
GWAS Ctlgrs587783215
Max Magnitude0
ClinVar
Risk rs587783215(A,T;A,T)
Alt rs587783215(A,T;A,T)
Reference rs587783215(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.197112244G>A
CLNSRC
CLNACC RCV000145078.1, RCV000171162.1,