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rs886040861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886040861(A;A)
Make rs886040861(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position48419722
GeneGRIN2D
is asnp
is mentioned by
dbSNPrs886040861
dbSNP (classic)rs886040861
ClinGenrs886040861
ebirs886040861
HLIrs886040861
Exacrs886040861
Gnomadrs886040861
Varsomers886040861
LitVarrs886040861
Maprs886040861
PheGenIrs886040861
Biobankrs886040861
1000 genomesrs886040861
hgdprs886040861
ensemblrs886040861
geneviewrs886040861
scholarrs886040861
googlers886040861
pharmgkbrs886040861
gwascentralrs886040861
openSNPrs886040861
23andMers886040861
23andMe allrs886040861
SNPshotrs886040861
SNPdbers886040861
MSV3drs886040861
GWAS Ctlgrs886040861
Max Magnitude0
ClinVar
Risk rs886040861(A;A)
Alt rs886040861(A;A)
Reference Rs886040861(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GRIN2D
CLNDBN Epileptic encephalopathy, early infantile, 46
Reversed 0
HGVS NC_000019.9:g.48922979G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000257970.1,