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rs587783733

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783733(C;C)
Make rs587783733(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position6414778
GeneMCPH1
is asnp
is mentioned by
dbSNPrs587783733
ebirs587783733
HLIrs587783733
Exacrs587783733
Varsomers587783733
Maprs587783733
PheGenIrs587783733
hapmaprs587783733
1000 genomesrs587783733
hgdprs587783733
ensemblrs587783733
gopubmedrs587783733
geneviewrs587783733
scholarrs587783733
googlers587783733
pharmgkbrs587783733
gwascentralrs587783733
openSNPrs587783733
23andMers587783733
23andMe allrs587783733
SNP Nexus

SNPshotrs587783733
SNPdbers587783733
MSV3drs587783733
GWAS Ctlgrs587783733
Max Magnitude0
ClinVar
Risk rs587783733(C;C)
Alt rs587783733(C;C)
Reference rs587783733(T;T)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 1
Variation info
Gene MCPH1
CLNDBN Primary autosomal recessive microcephaly 1
Reversed 0
HGVS NC_000008.10:g.6272299T>C
CLNSRC
CLNACC RCV000146272.1,