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rs587783216

From SNPedia

Orientationminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs587783216(-;-)
Make rs587783216(-;GT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position197146320
GeneASPM
is asnp
is mentioned by
dbSNPrs587783216
ebirs587783216
HLIrs587783216
Exacrs587783216
Varsomers587783216
Maprs587783216
PheGenIrs587783216
hapmaprs587783216
1000 genomesrs587783216
hgdprs587783216
ensemblrs587783216
gopubmedrs587783216
geneviewrs587783216
scholarrs587783216
googlers587783216
pharmgkbrs587783216
gwascentralrs587783216
openSNPrs587783216
23andMers587783216
23andMe allrs587783216
SNP Nexus

SNPshotrs587783216
SNPdbers587783216
MSV3drs587783216
GWAS Ctlgrs587783216
Max Magnitude0
ClinVar
Risk rs587783216(;)
Alt rs587783216(;)
Reference rs587783216(GT;GT)
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.197115450_197115451delAC
CLNSRC
CLNACC RCV000145079.1,