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rs1057519564

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519564(A;A)
Make rs1057519564(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position9141991
GeneDENND5A
is asnp
is mentioned by
dbSNPrs1057519564
dbSNP (old)rs1057519564
ClinGenrs1057519564
ebirs1057519564
HLIrs1057519564
Exacrs1057519564
Gnomadrs1057519564
Varsomers1057519564
Maprs1057519564
PheGenIrs1057519564
Biobankrs1057519564
1000 genomesrs1057519564
hgdprs1057519564
ensemblrs1057519564
gopubmedrs1057519564
geneviewrs1057519564
scholarrs1057519564
googlers1057519564
pharmgkbrs1057519564
gwascentralrs1057519564
openSNPrs1057519564
23andMers1057519564
23andMe allrs1057519564
SNPshotrs1057519564
SNPdbers1057519564
MSV3drs1057519564
GWAS Ctlgrs1057519564
Max Magnitude0
ClinVar
Risk rs1057519564(A;A)
Alt rs1057519564(A;A)
Reference Rs1057519564(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DENND5A
CLNDBN Epileptic encephalopathy, early infantile, 49
Reversed 1
HGVS NC_000011.9:g.9163538C>T
CLNSRC
CLNACC RCV000416977.1,