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rs587777862

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777862(C;C)
Make rs587777862(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position128222544
GeneDNM1
is asnp
is mentioned by
dbSNPrs587777862
ebirs587777862
HLIrs587777862
Exacrs587777862
Varsomers587777862
Maprs587777862
PheGenIrs587777862
hapmaprs587777862
1000 genomesrs587777862
hgdprs587777862
ensemblrs587777862
gopubmedrs587777862
geneviewrs587777862
scholarrs587777862
googlers587777862
pharmgkbrs587777862
gwascentralrs587777862
openSNPrs587777862
23andMers587777862
23andMe allrs587777862
SNP Nexus

SNPshotrs587777862
SNPdbers587777862
MSV3drs587777862
GWAS Ctlgrs587777862
Max Magnitude0
ClinVar
Risk rs587777862(C;C)
Alt rs587777862(C;C)
Reference rs587777862(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DNM1
CLNDBN Epileptic encephalopathy, early infantile, 31
Reversed 0
HGVS NC_000009.11:g.130984823G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144709.7,