Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777484

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777484(A;A)
Make rs587777484(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position62529349
GeneDOCK7
is asnp
is mentioned by
dbSNPrs587777484
dbSNP (classic)rs587777484
ClinGenrs587777484
ebirs587777484
HLIrs587777484
Exacrs587777484
Gnomadrs587777484
Varsomers587777484
LitVarrs587777484
Maprs587777484
PheGenIrs587777484
Biobankrs587777484
1000 genomesrs587777484
hgdprs587777484
ensemblrs587777484
geneviewrs587777484
scholarrs587777484
googlers587777484
pharmgkbrs587777484
gwascentralrs587777484
openSNPrs587777484
23andMers587777484
SNPshotrs587777484
SNPdbers587777484
MSV3drs587777484
GWAS Ctlgrs587777484
Max Magnitude0
ClinVar
Risk rs587777484(A;A) Rs587777484(G;G)
Alt rs587777484(A;A) Rs587777484(G;G)
Reference Rs587777484(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DOCK7
CLNDBN Epileptic encephalopathy, early infantile, 23
Reversed 1
HGVS NC_000001.10:g.62995020G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128436.3,