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rs587783258

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783258(-;-)
Make rs587783258(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197143615
GeneASPM
is asnp
is mentioned by
dbSNPrs587783258
ebirs587783258
HLIrs587783258
Exacrs587783258
Varsomers587783258
Maprs587783258
PheGenIrs587783258
hapmaprs587783258
1000 genomesrs587783258
hgdprs587783258
ensemblrs587783258
gopubmedrs587783258
geneviewrs587783258
scholarrs587783258
googlers587783258
pharmgkbrs587783258
gwascentralrs587783258
openSNPrs587783258
23andMers587783258
23andMe allrs587783258
SNP Nexus

SNPshotrs587783258
SNPdbers587783258
MSV3drs587783258
GWAS Ctlgrs587783258
Max Magnitude0
ClinVar
Risk rs587783258(;)
Alt rs587783258(;)
Reference rs587783258(A;A)
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.197112745delT
CLNSRC
CLNACC RCV000145166.1,