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rs587783265

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587783265(-;-)
Make rs587783265(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197102092
GeneASPM
is asnp
is mentioned by
dbSNPrs587783265
ebirs587783265
HLIrs587783265
Exacrs587783265
Varsomers587783265
Maprs587783265
PheGenIrs587783265
hapmaprs587783265
1000 genomesrs587783265
hgdprs587783265
ensemblrs587783265
gopubmedrs587783265
geneviewrs587783265
scholarrs587783265
googlers587783265
pharmgkbrs587783265
gwascentralrs587783265
openSNPrs587783265
23andMers587783265
23andMe allrs587783265
SNP Nexus

SNPshotrs587783265
SNPdbers587783265
MSV3drs587783265
GWAS Ctlgrs587783265
Max Magnitude0
ClinVar
Risk rs587783265(;)
Alt rs587783265(;)
Reference rs587783265(CT;CT)
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.197071220_197071221delAG
CLNSRC
CLNACC RCV000145180.3,