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rs587783741

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783741(A;A)
Make rs587783741(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position6431543
GeneMCPH1
is asnp
is mentioned by
dbSNPrs587783741
ebirs587783741
HLIrs587783741
Exacrs587783741
Varsomers587783741
Maprs587783741
PheGenIrs587783741
hapmaprs587783741
1000 genomesrs587783741
hgdprs587783741
ensemblrs587783741
gopubmedrs587783741
geneviewrs587783741
scholarrs587783741
googlers587783741
pharmgkbrs587783741
gwascentralrs587783741
openSNPrs587783741
23andMers587783741
23andMe allrs587783741
SNP Nexus

SNPshotrs587783741
SNPdbers587783741
MSV3drs587783741
GWAS Ctlgrs587783741
Max Magnitude0
ClinVar
Risk rs587783741(A;A)
Alt rs587783741(A;A)
Reference rs587783741(C;C)
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.6289064C>A
CLNSRC
CLNACC RCV000146324.1,