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rs587783268

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783268(C;T)
Make rs587783268(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197101639
GeneASPM
is asnp
is mentioned by
dbSNPrs587783268
ebirs587783268
HLIrs587783268
Exacrs587783268
Varsomers587783268
Maprs587783268
PheGenIrs587783268
hapmaprs587783268
1000 genomesrs587783268
hgdprs587783268
ensemblrs587783268
gopubmedrs587783268
geneviewrs587783268
scholarrs587783268
googlers587783268
pharmgkbrs587783268
gwascentralrs587783268
openSNPrs587783268
23andMers587783268
23andMe allrs587783268
SNP Nexus

SNPshotrs587783268
SNPdbers587783268
MSV3drs587783268
GWAS Ctlgrs587783268
Max Magnitude0
ClinVar
Risk rs587783268(T;T)
Alt rs587783268(T;T)
Reference rs587783268(C;C)
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.197070769G>A
CLNSRC
CLNACC RCV000145190.1,