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rs587783239

From SNPedia

Orientationminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs587783239(-;-)
Make rs587783239(-;GA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197121931
GeneASPM
is asnp
is mentioned by
dbSNPrs587783239
ebirs587783239
HLIrs587783239
Exacrs587783239
Varsomers587783239
Maprs587783239
PheGenIrs587783239
hapmaprs587783239
1000 genomesrs587783239
hgdprs587783239
ensemblrs587783239
gopubmedrs587783239
geneviewrs587783239
scholarrs587783239
googlers587783239
pharmgkbrs587783239
gwascentralrs587783239
openSNPrs587783239
23andMers587783239
23andMe allrs587783239
SNP Nexus

SNPshotrs587783239
SNPdbers587783239
MSV3drs587783239
GWAS Ctlgrs587783239
Max Magnitude0
ClinVar
Risk rs587783239(;)
Alt rs587783239(;)
Reference rs587783239(GA;GA)
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.197091061_197091062delTC
CLNSRC
CLNACC RCV000145122.1,