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rs863225306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225306(A;A)
Make rs863225306(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position46041337
GeneSLC12A5
is asnp
is mentioned by
dbSNPrs863225306
dbSNP (classic)rs863225306
ClinGenrs863225306
ebirs863225306
HLIrs863225306
Exacrs863225306
Gnomadrs863225306
Varsomers863225306
LitVarrs863225306
Maprs863225306
PheGenIrs863225306
Biobankrs863225306
1000 genomesrs863225306
hgdprs863225306
ensemblrs863225306
geneviewrs863225306
scholarrs863225306
googlers863225306
pharmgkbrs863225306
gwascentralrs863225306
openSNPrs863225306
23andMers863225306
SNPshotrs863225306
SNPdbers863225306
MSV3drs863225306
GWAS Ctlgrs863225306
Max Magnitude0
ClinVar
Risk rs863225306(A;A)
Alt rs863225306(A;A)
Reference Rs863225306(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 34
Variation info
Gene SLC12A5
CLNDBN Early infantile epileptic encephalopathy 34
Reversed 0
HGVS NC_000020.10:g.44669976T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202151.2,