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rs1057519310

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519310(-;-)
Make rs1057519310(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position9139724
GeneDENND5A
is asnp
is mentioned by
dbSNPrs1057519310
dbSNP (old)rs1057519310
ClinGenrs1057519310
ebirs1057519310
HLIrs1057519310
Exacrs1057519310
Gnomadrs1057519310
Varsomers1057519310
Maprs1057519310
PheGenIrs1057519310
Biobankrs1057519310
1000 genomesrs1057519310
hgdprs1057519310
ensemblrs1057519310
gopubmedrs1057519310
geneviewrs1057519310
scholarrs1057519310
googlers1057519310
pharmgkbrs1057519310
gwascentralrs1057519310
openSNPrs1057519310
23andMers1057519310
23andMe allrs1057519310
SNPshotrs1057519310
SNPdbers1057519310
MSV3drs1057519310
GWAS Ctlgrs1057519310
Max Magnitude0
ClinVar
Risk rs1057519310(-;-)
Alt rs1057519310(-;-)
Reference Rs1057519310(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DENND5A
CLNDBN Epileptic encephalopathy, early infantile, 49
Reversed 1
HGVS NC_000011.9:g.9161271delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000415582.2,