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rs144332569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144332569(C;T)
Make rs144332569(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position6703031
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs144332569
ebirs144332569
HLIrs144332569
Exacrs144332569
Varsomers144332569
Maprs144332569
PheGenIrs144332569
hapmaprs144332569
1000 genomesrs144332569
hgdprs144332569
ensemblrs144332569
gopubmedrs144332569
geneviewrs144332569
scholarrs144332569
googlers144332569
pharmgkbrs144332569
gwascentralrs144332569
openSNPrs144332569
23andMers144332569
23andMe allrs144332569
SNP Nexus

SNPshotrs144332569
SNPdbers144332569
MSV3drs144332569
GWAS Ctlgrs144332569
Max Magnitude0
ClinVar
Risk rs144332569(T;T)
Alt rs144332569(T;T)
Reference rs144332569(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC13A5
CLNDBN Epileptic encephalopathy, early infantile, 25
Reversed 0
HGVS NC_000017.10:g.6606350C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128860.4,