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rs587777485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777485(A;A)
Make rs587777485(A;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position62457653
GeneDOCK7
is asnp
is mentioned by
dbSNPrs587777485
ebirs587777485
HLIrs587777485
Exacrs587777485
Varsomers587777485
Maprs587777485
PheGenIrs587777485
hapmaprs587777485
1000 genomesrs587777485
hgdprs587777485
ensemblrs587777485
gopubmedrs587777485
geneviewrs587777485
scholarrs587777485
googlers587777485
pharmgkbrs587777485
gwascentralrs587777485
openSNPrs587777485
23andMers587777485
23andMe allrs587777485
SNP Nexus

SNPshotrs587777485
SNPdbers587777485
MSV3drs587777485
GWAS Ctlgrs587777485
Max Magnitude0
ClinVar
Risk rs587777485(A,C;A,C)
Alt rs587777485(A,C;A,C)
Reference rs587777485(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DOCK7
CLNDBN Epileptic encephalopathy, early infantile, 23
Reversed 1
HGVS NC_000001.10:g.62923324C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128438.2,