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rs1057519307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057519307(-;-)
Make rs1057519307(-;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position9204091
GeneDENND5A
is asnp
is mentioned by
dbSNPrs1057519307
dbSNP (classic)rs1057519307
ClinGenrs1057519307
ebirs1057519307
HLIrs1057519307
Exacrs1057519307
Gnomadrs1057519307
Varsomers1057519307
LitVarrs1057519307
Maprs1057519307
PheGenIrs1057519307
Biobankrs1057519307
1000 genomesrs1057519307
hgdprs1057519307
ensemblrs1057519307
geneviewrs1057519307
scholarrs1057519307
googlers1057519307
pharmgkbrs1057519307
gwascentralrs1057519307
openSNPrs1057519307
23andMers1057519307
23andMe allrs1057519307
SNPshotrs1057519307
SNPdbers1057519307
MSV3drs1057519307
GWAS Ctlgrs1057519307
Max Magnitude0
ClinVar
Risk rs1057519307(-;-)
Alt rs1057519307(-;-)
Reference Rs1057519307(GA;GA)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DENND5A
CLNDBN Epileptic encephalopathy, early infantile, 49
Reversed 1
HGVS NC_000011.9:g.9225638_9225639delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000415577.1,