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rs587783739

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783739(C;C)
Make rs587783739(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position6642993
GeneMCPH1, MCPH1-AS1
is asnp
is mentioned by
dbSNPrs587783739
ebirs587783739
HLIrs587783739
Exacrs587783739
Varsomers587783739
Maprs587783739
PheGenIrs587783739
hapmaprs587783739
1000 genomesrs587783739
hgdprs587783739
ensemblrs587783739
gopubmedrs587783739
geneviewrs587783739
scholarrs587783739
googlers587783739
pharmgkbrs587783739
gwascentralrs587783739
openSNPrs587783739
23andMers587783739
23andMe allrs587783739
SNP Nexus

SNPshotrs587783739
SNPdbers587783739
MSV3drs587783739
GWAS Ctlgrs587783739
Max Magnitude0
ClinVar
Risk rs587783739(A,C;A,C)
Alt rs587783739(A,C;A,C)
Reference rs587783739(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 1 not provided
Variation info
Gene MCPH1-AS1 MCPH1
CLNDBN Primary autosomal recessive microcephaly 1 not provided
Reversed 0
HGVS NC_000008.10:g.6500514G>C
CLNSRC
CLNACC RCV000146319.1, RCV000171411.1,