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rs587783269

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783269(-;-)
Make rs587783269(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197101586
GeneASPM
is asnp
is mentioned by
dbSNPrs587783269
ebirs587783269
HLIrs587783269
Exacrs587783269
Varsomers587783269
Maprs587783269
PheGenIrs587783269
hapmaprs587783269
1000 genomesrs587783269
hgdprs587783269
ensemblrs587783269
gopubmedrs587783269
geneviewrs587783269
scholarrs587783269
googlers587783269
pharmgkbrs587783269
gwascentralrs587783269
openSNPrs587783269
23andMers587783269
23andMe allrs587783269
SNP Nexus

SNPshotrs587783269
SNPdbers587783269
MSV3drs587783269
GWAS Ctlgrs587783269
Max Magnitude0
ClinVar
Risk rs587783269(;)
Alt rs587783269(;)
Reference rs587783269(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.197070716delT
CLNSRC
CLNACC RCV000145191.1,