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rs587783295

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783295(C;T)
Make rs587783295(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197090004
GeneASPM
is asnp
is mentioned by
dbSNPrs587783295
ebirs587783295
HLIrs587783295
Exacrs587783295
Varsomers587783295
Maprs587783295
PheGenIrs587783295
hapmaprs587783295
1000 genomesrs587783295
hgdprs587783295
ensemblrs587783295
gopubmedrs587783295
geneviewrs587783295
scholarrs587783295
googlers587783295
pharmgkbrs587783295
gwascentralrs587783295
openSNPrs587783295
23andMers587783295
23andMe allrs587783295
SNP Nexus

SNPshotrs587783295
SNPdbers587783295
MSV3drs587783295
GWAS Ctlgrs587783295
Max Magnitude0
ClinVar
Risk rs587783295(T;T)
Alt rs587783295(T;T)
Reference rs587783295(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.197059134G>A
CLNSRC
CLNACC RCV000145241.1,