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rs587783275

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783275(C;T)
Make rs587783275(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197101234
GeneASPM
is asnp
is mentioned by
dbSNPrs587783275
ebirs587783275
HLIrs587783275
Exacrs587783275
Varsomers587783275
Maprs587783275
PheGenIrs587783275
hapmaprs587783275
1000 genomesrs587783275
hgdprs587783275
ensemblrs587783275
gopubmedrs587783275
geneviewrs587783275
scholarrs587783275
googlers587783275
pharmgkbrs587783275
gwascentralrs587783275
openSNPrs587783275
23andMers587783275
23andMe allrs587783275
SNP Nexus

SNPshotrs587783275
SNPdbers587783275
MSV3drs587783275
GWAS Ctlgrs587783275
Max Magnitude0
ClinVar
Risk rs587783275(T;T)
Alt rs587783275(T;T)
Reference rs587783275(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.197070364G>A
CLNSRC
CLNACC RCV000145206.1,