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rs1057519308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519308(-;-)
Make rs1057519308(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position9150739
GeneDENND5A
is asnp
is mentioned by
dbSNPrs1057519308
dbSNP (classic)rs1057519308
ClinGenrs1057519308
ebirs1057519308
HLIrs1057519308
Exacrs1057519308
Gnomadrs1057519308
Varsomers1057519308
LitVarrs1057519308
Maprs1057519308
PheGenIrs1057519308
Biobankrs1057519308
1000 genomesrs1057519308
hgdprs1057519308
ensemblrs1057519308
geneviewrs1057519308
scholarrs1057519308
googlers1057519308
pharmgkbrs1057519308
gwascentralrs1057519308
openSNPrs1057519308
23andMers1057519308
23andMe allrs1057519308
SNPshotrs1057519308
SNPdbers1057519308
MSV3drs1057519308
GWAS Ctlgrs1057519308
Max Magnitude0
ClinVar
Risk rs1057519308(-;-)
Alt rs1057519308(-;-)
Reference Rs1057519308(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DENND5A
CLNDBN Epileptic encephalopathy, early infantile, 49
Reversed 1
HGVS NC_000011.9:g.9172286delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000415606.1,