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rs886037942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886037942(C;C)
Make rs886037942(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position35315089
GeneSLC1A2
is asnp
is mentioned by
dbSNPrs886037942
dbSNP (classic)rs886037942
ClinGenrs886037942
ebirs886037942
HLIrs886037942
Exacrs886037942
Gnomadrs886037942
Varsomers886037942
LitVarrs886037942
Maprs886037942
PheGenIrs886037942
Biobankrs886037942
1000 genomesrs886037942
hgdprs886037942
ensemblrs886037942
geneviewrs886037942
scholarrs886037942
googlers886037942
pharmgkbrs886037942
gwascentralrs886037942
openSNPrs886037942
23andMers886037942
23andMe allrs886037942
SNPshotrs886037942
SNPdbers886037942
MSV3drs886037942
GWAS Ctlgrs886037942
Max Magnitude0
ClinVar
Risk rs886037942(C;C)
Alt rs886037942(C;C)
Reference Rs886037942(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC1A2
CLNDBN Epileptic encephalopathy, early infantile, 41
Reversed 1
HGVS NC_000011.9:g.35336636C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000240886.1,