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rs587783238

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783238(A;A)
Make rs587783238(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197121955
GeneASPM
is asnp
is mentioned by
dbSNPrs587783238
ebirs587783238
HLIrs587783238
Exacrs587783238
Varsomers587783238
Maprs587783238
PheGenIrs587783238
hapmaprs587783238
1000 genomesrs587783238
hgdprs587783238
ensemblrs587783238
gopubmedrs587783238
geneviewrs587783238
scholarrs587783238
googlers587783238
pharmgkbrs587783238
gwascentralrs587783238
openSNPrs587783238
23andMers587783238
23andMe allrs587783238
SNP Nexus

SNPshotrs587783238
SNPdbers587783238
MSV3drs587783238
GWAS Ctlgrs587783238
Max Magnitude0
ClinVar
Risk rs587783238(A;A)
Alt rs587783238(A;A)
Reference rs587783238(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.197091085C>T
CLNSRC
CLNACC RCV000145121.1,