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rs1057519563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519563(C;T)
Make rs1057519563(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position9160835
GeneDENND5A
is asnp
is mentioned by
dbSNPrs1057519563
dbSNP (old)rs1057519563
ClinGenrs1057519563
ebirs1057519563
HLIrs1057519563
Exacrs1057519563
Gnomadrs1057519563
Varsomers1057519563
Maprs1057519563
PheGenIrs1057519563
Biobankrs1057519563
1000 genomesrs1057519563
hgdprs1057519563
ensemblrs1057519563
gopubmedrs1057519563
geneviewrs1057519563
scholarrs1057519563
googlers1057519563
pharmgkbrs1057519563
gwascentralrs1057519563
openSNPrs1057519563
23andMers1057519563
23andMe allrs1057519563
SNPshotrs1057519563
SNPdbers1057519563
MSV3drs1057519563
GWAS Ctlgrs1057519563
Max Magnitude0
ClinVar
Risk rs1057519563(T;T)
Alt rs1057519563(T;T)
Reference Rs1057519563(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene DENND5A
CLNDBN Epileptic encephalopathy, early infantile, 49
Reversed 1
HGVS NC_000011.9:g.9182382G>A
CLNSRC
CLNACC RCV000416961.1,