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rs587783228

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783228(-;-)
Make rs587783228(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197125160
GeneASPM
is asnp
is mentioned by
dbSNPrs587783228
ebirs587783228
HLIrs587783228
Exacrs587783228
Varsomers587783228
Maprs587783228
PheGenIrs587783228
hapmaprs587783228
1000 genomesrs587783228
hgdprs587783228
ensemblrs587783228
gopubmedrs587783228
geneviewrs587783228
scholarrs587783228
googlers587783228
pharmgkbrs587783228
gwascentralrs587783228
openSNPrs587783228
23andMers587783228
23andMe allrs587783228
SNP Nexus

SNPshotrs587783228
SNPdbers587783228
MSV3drs587783228
GWAS Ctlgrs587783228
Max Magnitude0
ClinVar
Risk rs587783228(;)
Alt rs587783228(;)
Reference rs587783228(G;G)
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.197094290delC
CLNSRC
CLNACC RCV000145105.1,