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rs1057519309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519309(A;G)
Make rs1057519309(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position9178907
GeneDENND5A
is asnp
is mentioned by
dbSNPrs1057519309
dbSNP (old)rs1057519309
ClinGenrs1057519309
ebirs1057519309
HLIrs1057519309
Exacrs1057519309
Gnomadrs1057519309
Varsomers1057519309
Maprs1057519309
PheGenIrs1057519309
Biobankrs1057519309
1000 genomesrs1057519309
hgdprs1057519309
ensemblrs1057519309
gopubmedrs1057519309
geneviewrs1057519309
scholarrs1057519309
googlers1057519309
pharmgkbrs1057519309
gwascentralrs1057519309
openSNPrs1057519309
23andMers1057519309
23andMe allrs1057519309
SNPshotrs1057519309
SNPdbers1057519309
MSV3drs1057519309
GWAS Ctlgrs1057519309
Max Magnitude0
ClinVar
Risk rs1057519309(G;G)
Alt rs1057519309(G;G)
Reference Rs1057519309(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DENND5A
CLNDBN Epileptic encephalopathy, early infantile, 49
Reversed 1
HGVS NC_000011.9:g.9200454T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000415550.2,