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rs587783230

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783230(G;G)
Make rs587783230(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197124173
GeneASPM
is asnp
is mentioned by
dbSNPrs587783230
ebirs587783230
HLIrs587783230
Exacrs587783230
Varsomers587783230
Maprs587783230
PheGenIrs587783230
hapmaprs587783230
1000 genomesrs587783230
hgdprs587783230
ensemblrs587783230
gopubmedrs587783230
geneviewrs587783230
scholarrs587783230
googlers587783230
pharmgkbrs587783230
gwascentralrs587783230
openSNPrs587783230
23andMers587783230
23andMe allrs587783230
SNP Nexus

SNPshotrs587783230
SNPdbers587783230
MSV3drs587783230
GWAS Ctlgrs587783230
Max Magnitude0
ClinVar
Risk rs587783230(G;G)
Alt rs587783230(G;G)
Reference rs587783230(T;T)
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.197093303A>C
CLNSRC
CLNACC RCV000145111.1,