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rs1057518655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518655(-;GAT)
Make rs1057518655(GAT;GAT)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position128219130
GeneDNM1
is asnp
is mentioned by
dbSNPrs1057518655
dbSNP (old)rs1057518655
ClinGenrs1057518655
ebirs1057518655
HLIrs1057518655
Exacrs1057518655
Gnomadrs1057518655
Varsomers1057518655
Maprs1057518655
PheGenIrs1057518655
Biobankrs1057518655
1000 genomesrs1057518655
hgdprs1057518655
ensemblrs1057518655
gopubmedrs1057518655
geneviewrs1057518655
scholarrs1057518655
googlers1057518655
pharmgkbrs1057518655
gwascentralrs1057518655
openSNPrs1057518655
23andMers1057518655
23andMe allrs1057518655
SNPshotrs1057518655
SNPdbers1057518655
MSV3drs1057518655
GWAS Ctlgrs1057518655
Max Magnitude0
ClinVar
Risk rs1057518655(GAT;GAT)
Alt rs1057518655(GAT;GAT)
Reference Rs1057518655(-;-)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DNM1
CLNDBN Epileptic encephalopathy, early infantile, 31
Reversed 0
HGVS NC_000009.11:g.130981407_130981409dupGAT
CLNSRC
CLNACC RCV000415220.1,