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rs587783735

From SNPedia

Orientationplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587783735(-;-)
Make rs587783735(-;AT)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position6455186
GeneMCPH1
is asnp
is mentioned by
dbSNPrs587783735
ebirs587783735
HLIrs587783735
Exacrs587783735
Varsomers587783735
Maprs587783735
PheGenIrs587783735
hapmaprs587783735
1000 genomesrs587783735
hgdprs587783735
ensemblrs587783735
gopubmedrs587783735
geneviewrs587783735
scholarrs587783735
googlers587783735
pharmgkbrs587783735
gwascentralrs587783735
openSNPrs587783735
23andMers587783735
23andMe allrs587783735
SNP Nexus

SNPshotrs587783735
SNPdbers587783735
MSV3drs587783735
GWAS Ctlgrs587783735
Max Magnitude0
ClinVar
Risk rs587783735(;)
Alt rs587783735(;)
Reference rs587783735(AT;AT)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 1
Variation info
Gene MCPH1
CLNDBN Primary autosomal recessive microcephaly 1
Reversed 0
HGVS NC_000008.10:g.6312707_6312708delAT
CLNSRC
CLNACC RCV000146285.1,