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rs587783287

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783287(C;T)
Make rs587783287(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197093255
GeneASPM
is asnp
is mentioned by
dbSNPrs587783287
ebirs587783287
HLIrs587783287
Exacrs587783287
Varsomers587783287
Maprs587783287
PheGenIrs587783287
hapmaprs587783287
1000 genomesrs587783287
hgdprs587783287
ensemblrs587783287
gopubmedrs587783287
geneviewrs587783287
scholarrs587783287
googlers587783287
pharmgkbrs587783287
gwascentralrs587783287
openSNPrs587783287
23andMers587783287
23andMe allrs587783287
SNP Nexus

SNPshotrs587783287
SNPdbers587783287
MSV3drs587783287
GWAS Ctlgrs587783287
Max Magnitude0
ClinVar
Risk rs587783287(T;T)
Alt rs587783287(T;T)
Reference rs587783287(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.197062385G>A
CLNSRC
CLNACC RCV000145225.1,