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rs587777860

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777860(C;C)
Make rs587777860(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position128219192
GeneDNM1
is asnp
is mentioned by
dbSNPrs587777860
ebirs587777860
HLIrs587777860
Exacrs587777860
Varsomers587777860
Maprs587777860
PheGenIrs587777860
hapmaprs587777860
1000 genomesrs587777860
hgdprs587777860
ensemblrs587777860
gopubmedrs587777860
geneviewrs587777860
scholarrs587777860
googlers587777860
pharmgkbrs587777860
gwascentralrs587777860
openSNPrs587777860
23andMers587777860
23andMe allrs587777860
SNP Nexus

SNPshotrs587777860
SNPdbers587777860
MSV3drs587777860
GWAS Ctlgrs587777860
Max Magnitude0
ClinVar
Risk rs587777860(A,C;A,C)
Alt rs587777860(A,C;A,C)
Reference rs587777860(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DNM1
CLNDBN Epileptic encephalopathy, early infantile, 31
Reversed 0
HGVS NC_000009.11:g.130981471G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144707.7,