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rs587783272

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783272(C;T)
Make rs587783272(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197101426
GeneASPM
is asnp
is mentioned by
dbSNPrs587783272
ebirs587783272
HLIrs587783272
Exacrs587783272
Varsomers587783272
Maprs587783272
PheGenIrs587783272
hapmaprs587783272
1000 genomesrs587783272
hgdprs587783272
ensemblrs587783272
gopubmedrs587783272
geneviewrs587783272
scholarrs587783272
googlers587783272
pharmgkbrs587783272
gwascentralrs587783272
openSNPrs587783272
23andMers587783272
23andMe allrs587783272
SNP Nexus

SNPshotrs587783272
SNPdbers587783272
MSV3drs587783272
GWAS Ctlgrs587783272
Max Magnitude0
ClinVar
Risk rs587783272(T;T)
Alt rs587783272(T;T)
Reference rs587783272(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.197070556G>A
CLNSRC
CLNACC RCV000145199.1,