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rs587783295

From SNPedia

Orientationminus
Stabilizedminus
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
dbSNP (classic)rs587783295
ClinGenrs587783295
ebirs587783295
HLIrs587783295
Exacrs587783295
Gnomadrs587783295
Varsomers587783295
LitVarrs587783295
Maprs587783295
PheGenIrs587783295
Biobankrs587783295
1000 genomesrs587783295
hgdprs587783295
ensemblrs587783295
geneviewrs587783295
scholarrs587783295
googlers587783295
pharmgkbrs587783295
gwascentralrs587783295
openSNPrs587783295
23andMers587783295
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 not provided
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not provided
Reversed 1
HGVS NC_000001.10:g.197059134G>A
CLNSRC
CLNACC RCV000145241.1, RCV000255897.1,