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rs886037943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs886037943(C;C)
Make rs886037943(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position35315079
GeneSLC1A2
is asnp
is mentioned by
dbSNPrs886037943
dbSNP (classic)rs886037943
ClinGenrs886037943
ebirs886037943
HLIrs886037943
Exacrs886037943
Gnomadrs886037943
Varsomers886037943
LitVarrs886037943
Maprs886037943
PheGenIrs886037943
Biobankrs886037943
1000 genomesrs886037943
hgdprs886037943
ensemblrs886037943
geneviewrs886037943
scholarrs886037943
googlers886037943
pharmgkbrs886037943
gwascentralrs886037943
openSNPrs886037943
23andMers886037943
23andMe allrs886037943
SNPshotrs886037943
SNPdbers886037943
MSV3drs886037943
GWAS Ctlgrs886037943
Max Magnitude0
ClinVar
Risk rs886037943(C;C)
Alt rs886037943(C;C)
Reference Rs886037943(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC1A2
CLNDBN Epileptic encephalopathy, early infantile, 41
Reversed 1
HGVS NC_000011.9:g.35336626A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000240924.1,