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rs863225448

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225448(C;C)
Make rs863225448(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position6687534
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs863225448
ebirs863225448
HLIrs863225448
Exacrs863225448
Varsomers863225448
Maprs863225448
PheGenIrs863225448
hapmaprs863225448
1000 genomesrs863225448
hgdprs863225448
ensemblrs863225448
gopubmedrs863225448
geneviewrs863225448
scholarrs863225448
googlers863225448
pharmgkbrs863225448
gwascentralrs863225448
openSNPrs863225448
23andMers863225448
23andMe allrs863225448
SNP Nexus

SNPshotrs863225448
SNPdbers863225448
MSV3drs863225448
GWAS Ctlgrs863225448
Max Magnitude0
ClinVar
Risk rs863225448(C;C)
Alt rs863225448(C;C)
Reference rs863225448(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 1
HGVS NC_000017.10:g.6590853C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202401.1,