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rs587783259

From SNPedia

Orientationminus
Geno Mag Summary
(TCTC;TCTC) 0 common in clinvar
Make rs587783259(-;-)
Make rs587783259(-;TCTC)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197102396
GeneASPM
is asnp
is mentioned by
dbSNPrs587783259
ebirs587783259
HLIrs587783259
Exacrs587783259
Varsomers587783259
Maprs587783259
PheGenIrs587783259
hapmaprs587783259
1000 genomesrs587783259
hgdprs587783259
ensemblrs587783259
gopubmedrs587783259
geneviewrs587783259
scholarrs587783259
googlers587783259
pharmgkbrs587783259
gwascentralrs587783259
openSNPrs587783259
23andMers587783259
23andMe allrs587783259
SNP Nexus

SNPshotrs587783259
SNPdbers587783259
MSV3drs587783259
GWAS Ctlgrs587783259
Max Magnitude0
ClinVar
Risk rs587783259(;)
Alt rs587783259(;)
Reference rs587783259(TCTC;TCTC)
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.197071526_197071529delGAGA
CLNSRC
CLNACC RCV000145172.1,