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rs863225304

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225304(C;C)
Make rs863225304(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position46043294
GeneSLC12A5
is asnp
is mentioned by
dbSNPrs863225304
ebirs863225304
HLIrs863225304
Exacrs863225304
Varsomers863225304
Maprs863225304
PheGenIrs863225304
hapmaprs863225304
1000 genomesrs863225304
hgdprs863225304
ensemblrs863225304
gopubmedrs863225304
geneviewrs863225304
scholarrs863225304
googlers863225304
pharmgkbrs863225304
gwascentralrs863225304
openSNPrs863225304
23andMers863225304
23andMe allrs863225304
SNP Nexus

SNPshotrs863225304
SNPdbers863225304
MSV3drs863225304
GWAS Ctlgrs863225304
Max Magnitude0
ClinVar
Risk rs863225304(C;C)
Alt rs863225304(C;C)
Reference rs863225304(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.44671933T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000202258.1,