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rs587783211

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783211(C;T)
Make rs587783211(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197086966
GeneASPM
is asnp
is mentioned by
dbSNPrs587783211
ebirs587783211
HLIrs587783211
Exacrs587783211
Varsomers587783211
Maprs587783211
PheGenIrs587783211
hapmaprs587783211
1000 genomesrs587783211
hgdprs587783211
ensemblrs587783211
gopubmedrs587783211
geneviewrs587783211
scholarrs587783211
googlers587783211
pharmgkbrs587783211
gwascentralrs587783211
openSNPrs587783211
23andMers587783211
23andMe allrs587783211
SNP Nexus

SNPshotrs587783211
SNPdbers587783211
MSV3drs587783211
GWAS Ctlgrs587783211
Max Magnitude0
ClinVar
Risk rs587783211(T;T)
Alt rs587783211(T;T)
Reference rs587783211(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.197056096G>A
CLNSRC
CLNACC RCV000145074.1, RCV000162061.1,